Wilda

Down below I have links to catalogues where I will link to each genetics post I make.

They will be sorted based on what each mutation does.

The categories they will be sorted with are as following:

Pigment type switching, these are alleles that determine where eumelanin (black/liver/dilute pigment) will be produced. This can include determining the phaeomelanin (red/yellow) and eumelanin banding of the individual hairs or the placement of these pigments on the body. It also includes alleles that make the animal entirely black or entirely red.

Depigmentation, these are alleles that in one way or another decrease the amount of pigment the animal has. There are several different types;

Piebald, this causes white spots on the animal's body where melanocytes (pigment cells) fail to migrate. In other words, the animal is completely incapable of producing pigmentation in these areas. They can range from a small spot on the chest to the entire animal being white.

Dilution, this is where the pigments in the hairs are clumped together, which creates the illusion of paler pigmentation. Imagine you have a piece of paper and you draw black dots on it. Depending on the density of the black dots, when you step back you get various shades of grey. This is how dilutions work to get a more pale animal.

Roan works by having white hairs interspersed with colored hairs in the coat. This is achieved by removing pigmentation in some hairs that would otherwise be colored.

Recoloring is the addition of color in white areas. This can be individual hairs, which can cause a roan-like appearance, or it can be spots of various size. Most of the time it's relatively small spots called ticking.

Progressive pigment loss is exactly what it sounds like. The animal starts out with some degree or full color, and progressively loose it. This happens much faster than the normal age related greying.

Other. I have decided that in this category I will put anything that doesn't fit in the others. So this will include alleles such as ear shape and length, leg length, coat type and more.

Cattle

Cats

Chickens

Dogs

Donkey

Mallard ducks

Muscovy ducks

Pigs

Sheep

The Sardo Negro pattern causes color on the head, legs and side of body, homozygotes seem to not survive past a couple days.

The swedish print pattern is present in Watusi and seem to be a dominant pattern. It causes white on the belly, legs and face and tend to have a lot of ticking. The legs are sometimes completely colored. It is believed to have originated either in africa or india and can be traced back to the bull Jimmie the Swede.

In Hereford there has been cases of completely white, or almost completely white cattle with blue eyes. It's inherited dominantly but the causative mutation hasn't been found

In the Highland there's a pattern that makes the udders white, there can also be some white spotting on the stomach. The inheritance is unknown but it may be allelic to spotting (so potentially a PAX3, MITF or KIT mutation)

In cattle the belted mutation is dominant and located on the TWIST2 gene, it can vary in expression but studies have found that homozygotes are not necessarily more white. The presence of additional white spotting patterns such as a blaze and white feet seem to increase the size of the belt.

In the Cinisara the colorsided pattern has been found to not be caused by the KIT gene unlike most other colorsided mutations, researchers found it to be potentially caused by the PLK2 gene. This pattern is very similar to the pinzgauer (KIT^pinz) pattern located on KIT.

Another mutation not on KIT is the colorsided pattern in the Nguni, no candidate gene has been found but KIT has been ruled out. I have only found one photo of the pattern.

Another pattern in the Nguni is the white forehead stripe, no gene has been found for this one either.

Eight russian cattle breeds have been found to have a mutation on the SLC41A2 gene that causes a white pattern very similar to the KIT mutation found in Hereford, Simmental and related breeds.

In an Angus family, there seem to be a dominant pattern somewhat similar to belt. The mutation is unknown as of yet.

Back to cattle genetics catalogue

Further reading

Cattle don't really have many widespread common MITF mutations.

There is one dominant de novo mutation in an Angus calf that caused colored patches on the head. Though this one hasn't been bred.

There's another in Brown Swiss that is somewhat similar to the belted pattern, though the white doesn't seem to consistently cause a complete belted phenotype and tend to put white on the legs and head. This mutation is dominant with incomplete penetrance.

A dominant mutation in Fleckvieh cattle causes a completely white coat with blue eyes and pink skin.

Another dominant mutation in the Holstein causes a similar phenotype to the dominant white, this one is called glass eyed albino (but is a form of piebaldism) this one doesn't always cause a completely white phenotype, color is sometimes present on the ears and in the eyes.

From my understanding, the spotted pattern in the holstein is caused by at least three, but maybe more, mutations on three different genes, KIT, MITF and PAX3 and each mutation is incomplete dominant. Many sources treat piebald as recessive though so there's probably more to it. The more mutations a cow has the more white the cow will have, so, for example, a cow that is heterozygous MITF and has none of the others will have much less white than a cow that, for example, is homozygous MITF and heterozygous PAX3. And a cow that is homozygous for all of them is going to have a lot of white.

Back to the cattle genetics catalogue

Further reading

The KIT gene has many mutations in cattle, it causes white patterns, and sometimes roaning, in the cows coat.

One of them is present in British White, White Galloway and Belgian Blue and is called Cs29. It is an incomplete dominant mutation that when heterozygous makes the cow a speckled/roany color sided. Homozygotes have a white body with colored nose, ears and hooves, they sometimes have speckles on the body.

First photo is of heterozygous animals and second is a homozygous British White and White Galloway has something in addition to this pattern that increases the amount of white. Heterozygotes in these breeds have the same amount of white that a homozygous Belgian Blue has while homozygotes are pretty much completely white. This is likely a recessive modifier since white galloway crosses are seemingly unaffected by the modifier and have the typical heterozygous pattern.

Again, heterozygous top and homozygous bottom photo, both are homozygous for the modifier.

The pattern in the hereford, simmental and more breeds is caused by different number of duplications, cattle with less white might only have a partial dulplication while cattle with a lot of white might have more than one duplication. The pattern of white that these have is white on the face, legs, stomach and a stripe on the top of the neck in some. It is also incomplete dominant, so heterozygotes will have less white.

This is the wide range of patterns these mutations can have, how much white depend on whether the animal is heterozygous or homozygous and also how many duplications they have

Another mutation (named KIT^pinz), this time in the Pinzgauer, Gloucester and more breeds, causes a more clean looking color sided pattern, as opposed to the more roany ones. It puts more white towards the back of the body and avoids the face. It's also incomplete dominant. In the Longhorn and Florida Cracker there are modifying genes that increase the amount of white. In the longhorn there also seem to be a modifier that turn the coloredd patches on the side into many small spots, similar to ticking.

This is the range of white the pinzgauer mutation can produce, the first bull is heterozygous and the last two cattle have white boosters

The Pustertaler Spinzen and the Vosgienne has another mutation, Cs6, that is similar to the Cs29 mutation. It may be incomplete dominant though scientist are currently unable to differentiate heterozygotes and homozygotes in tests. It is very similar to het Cs29 but it doesn't seem to get as light colored as hom Cs29.

There's a mutation discovered in a Brown Swiss cow and her calf, it has a lot of similarities with sabino in horses.

Combinations When pinzgauer and whitehead are combined, the resulting pattern can vary a bit but typically result in an animal that has the pinzgauer white on the back and belly often with a white head. The legs are sometimes white as well.

Whn pinzgauer is combined with cs29, the resulting offspring is mostly white, more white than homozygous cs29 cattle.

Back to cattle genetics catalogue

Pigment type switching

Fawn, brindle, patterned blackish and more Recessive red, dominant black, blackred Others

Depigmentation

Dilutions

Charolais, simmental and more Cool grey and more Other

Albinism

OCA4, OCA1 and more

Piebald patterns

Colorsided, whitehead, pinzgauer and more Dominant white and more Other

Recoloring

Brockling and ACOP

Roaning

Roan Frosted/mahogany

Other

Horns Crop ear Short legs Double muscling Mulefoot Coat (slick, long, curly etc.)

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Further reading

MC1R works together with ASIP/Agouti and K-locus and tend to either modify or cover up the agouti patterns.

The order of dominance is;

Em (mask) > wild type (E) > ea and eg (grizzle and domino) > eh (cocker sable) > e (recessive red)

The most dominant mutation is mask (Em) which simply adds a black mask on the face over the agouti pattern, so a masked sable dog looks like a normal sable but with a black muzzle, same with tanpoint, the muzzle becomes black but the rest of the pattern remains unchanged.

Black mask varies from a little sootyness on the muzzle to even encompassing the chest, in these the black follows a similar shape to the tanpoint pattern. You can selectively breed mask expression to some extent.

Some dogs that have a mask, sometimes quite a large mask, test negative for the mask mutation. This pattern seem to be inherited in a recessive manner.

The wild type (E) just allows the agouti pattern to express normally. It doesn't add anyting.

The rest of the mutations are recessive to wild type and reduces the amount of black pigment the dog has.

The domino mutations (ancient domino ,ea, present in many different breeds, and grizzle, eg, present in sighthounds) are visually indistinguishable and tend to reduce black in the coat. It creates a pattern that is very common in the husky.

Domino may also lighten the red pigment as well, but this is not certain.

Domino puppies tend to be born with clear white faces with domino patterns, the skin also tend to be pink on the muzzle

Ancient domino tend to interact with agouti by mostly removing black on the muzzle and underneath the eyes, but there is a lot of variation.

Sable dominos tend to be born with some black pigment that fades away until the dog has little to no left

Since saddle removes black pigment on the face, domino saddle can be difficult to distinguish. Though they sometimes have pink on the middle of the nose and white whiskers

Some tanpoint dominos are very light colored, they only have black pigment on the top of their head and back, this seem to be inherited recessively.

When recessive black is combined with domino it creates a phenotype extremely similar to agouti

The dog in the middle is tanpoint domino

Dominant black in combination with domino creates a dog that looks like it's been rolled in soot, or as if you draw a normal dog in photoshop and then add a black layer on top with the opacity turned down.

It also tend to add a faint mask.

Sable domino dominant black tend to be reddish on the body and grey on the face, sometimes on the neck as well

Brindle seem to affect the black areas of the coat instead of the tan areas in dominos and grizzles. This means a tanpoint will have a brindled back instead of brindled points.

This is what wolf grey domino with dominant black looks like

In english cocker spaniels there is a pattern called sable, eh, (not to be confused with the dominant agouti mutation called sable)

This is what puppies look like, they look like recessive reds as adults

It is quite similar to recessive red and is called dirty red, but puppies are born with some black sootynes on the forehead that disappears with age.

All english cocker spaniels are either tanpoint or recessive black, tanpoint is the most common agouti pattern.

It's so far unknown what recessive black looks like with eh.

When eh is combined with dominant back the tanpoint dog looks very similar to a regular domino tanpoint and is called sable.

I have only seen two puppies who are "sable" recessive and dominant black (eh- a/a KB-) but unfortunately I haven't found adult photos.

They are black with some red smudges that are very faintly in a tanpoint ish pattern, somewhat similar to regular domino + dominant black.

Recessive red (e) completely removes black pigment in the coat. The skin remains dark.

There are several different mutations but they all look the same.

Recessive red is somewhat incomplete recessive and tend to remove a small amount of black pigment in heterozygotes, but the effect is so small that you would probably only notice it when closely comparing dogs.

In some breeds, recessive red dogs tend to have lighter colored red pigment compared to full siblings who are not rec red. This is seen in german shepherds among others

Recessive red can range from completely white to a deep red, this is caused by several different mutations that work independently to MC1R

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Further reading

Cocker spaniel sable

Some of the most recognisable dog colors come from the agouti (ASIP) locus. This is where color such as sable, black and tan and wolf grey are located.

Note that for these colors to express as they do in the drawing above, they need to be wild type on another gene. More about that in this post.

ASIP mutations interact with the extension locus and the K-locus to determine where the black and the red pigments are supposed to go. All the dogs in this post are wild type both at extension and the K-locus.

There are several agouti mutations in dogs and there have been a lot of progress recently in identifying them genetically.

The old understanding was that there were Aw (wild type/wolf grey/grey etc.), ay (sable/fawn) at (black and tan/ tanpoint) and a (recessive black) but many results came back incorrect. Tanpoint dogs testing as Aw was quite common in some breeds.

Thanks to a relatively recent study we now have much more accurate testing.

ASIP mutations that restrict eumelanin more extensively (mutations that have less black pigment) are more dominant than mutations that are darker.

The order of dominance is as follows;

Ay > Ays > Aw > asa > at > a

The mutations furthest to the left are more dominant.

Wolf grey/agouti (ASIP^AG or Aw) is the wild type color.

And it causes the pattern that looks very wolfish. It has much more black or grey color on the face compared to shaded sables, who can otherwise look quite similar sometimes.

It is the third most dominant pattern on this locus, only clear sable and shaded sable are more dominant.

Wolf grey has a pretty distinct face marking, with dark color circling the bottom of the eye

Wolf grey has a lot of variation, and apart from tanpoint darkening the color somewhat when carried, the cause of the shade variation is unknown.

ASIP^DY (Ay) is clear sable, it typically causes very minimal black, typically on the back and/or ears, and some can look very similar to recessive red. Tanpoint carriers are often somewhat darker.

Both clear sable and shaded sable are often born quite dark and undergo a pretty dramatic color change as they age.

Clear sables that have no black in the coat tend to have black whiskers, solid nose color and darker puppy coat which is some ways to distinguish them from recessive reds. Unlike recessive reds, sables can have a black mask.

ASIP^SY (Ays) is shaded sable, it looks very similar to clear sable but has more black pigment, there is a lot of overlap in the sable phenotypes so it can be quite difficult to visually see the difference sometimes.

There is a lot of overlap in phenotypes in the two sable mutations but shaded sable usually doesn't become quite as light as clear sable.

Again, tanpoint carriers tend to be slightly darker.

Some dogs, who test as sable, are almost completely black. This is most often seen in Malinois and Akita, and it may be a dominant modifier.

Another possible modifier is present in Tibetan Spaniels, where dogs get a mantle over the shoulders. It looks very much like a black blanket has been put over the dog, with some color spreading down around the neck and partway down the shoulders.

ASIP^BS (Asa) Saddle, these dogs are born looking like tanpoint dogs but they gradually loose black until they are left with a saddle on their back. Asa/at dogs tend to be a little darker.

There is a still unknown gene that turns the saddle pattern really small, it mostly just cover a small area over the ribs. Sometimes only the upper ribs closest to the upper shoulder area. And doesn't seem to be able to affect tanpoint.

Carrying recessive red can make the saddle slightly smaller, but not to this extent.

ASIP^BB1-BB3 (at1-at3) There are three identified tanpoint mutations and they are identical to each other, they cause the Rottweiler or Doberman pattern.

Tanpoint doesn't have a lot of variation in it's expression, but they can have a dark neck or lighter neck, some have light undercoat on the shoulders and some pencilling on the toes sometimes.

The ones with lighter undercoat tend to carry recessive red

ASIP^a (a) causes the pattern recessive black, this makes the dog entirely black and is mostly indistinguishable to dominant black, only time you'd see a difference visually is when they are combined with domino or other modifiers.

Recessive black can sometimes have red pigment on the legs. Dominant black is much more common than recessive black.

Recessive black, when carried, can sometimes darken other agouti patterns. Just like tanpoint can.

The recessive black mutation works by deactivating the ASIP gene and stopping it from working the way it should. This means ASIP can't switch back to red pigment production and will instead only produce black pigment.

In the most recent study several combinations of haplotypes where identified, VP1, VP2 and HCP1-5.

VP (ventral promoter) causes phaeomelanin on the dog's underside.

HCP (hair cycle promoter) is responsible for hair banding.

Together these create the different agouti patterns.

VP1 causes more red pigment on the underside compared to VP2.

VP1 is found in clear sable and saddle.

VP2 is found in shaded sable, wolf grey and tanpoint.

HCP1 causes the hair banding to have more yellow in it as seen in clear sable and shaded sable dogs.

HCP2 causes normal hair banding that is seen in agouti dogs.

HCP3, HCP4 and HCP5 have completely lost the ability to cause hair banding, this is why tanpoint dogs have solid colored hairs.

The different combinations of haplotypes are;

Clear sable VP1 HCP1

Shaded sable VP2 HCP1

Agouti VP2 HCP2

*Patterned sable VP1 HCP2

Saddle VP1 HCP4

Tanpoint VP2 HCP3, 4, 5

**Recessive black (VP2) (HCP3)

*wolf grey with a saddle-like pattern, present mostly in German Shepherds where wolf grey is called sable

**Recessive black is a different type of mutation and it mutated in a dog that was already tanpoint. This means all recessive black dogs also carry tanpoint on the same allele.

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Further reading

Pigment type switching

Agouti patterns

Extension/MC1R

Brindle, dominant black

Seal

Red intensity, urajiro

Other

Depigmentation

Dilutions

Blue/dilute

Cocoa, liver

Merle

Harlequin

Albinism

OCA2, OCA4

Temperature sensitive albinism/himalayan/siamese

Piebald patterns

KIT

Piebald

Whitehead

Irish spotting, great dane

Blue eyes

Other

Recoloring

Ticking and roaning

Progressive pigment loss

Progressive greying

Other

Leg length, tail, bifid nose

Coat (curly, wire, bald, long, ridge, double coat)

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Further reading

Coats and Colors website

I've decided to start a series of posts where I talk about genetics in various animal species.

I'm going to cover color, coat and body traits (ear shape, leg length etc.) I'm going to go through both the more well known and more common traits as well as some rare ones. 

I'm going to try my best to post links to sources but a lot of information comes from conversations and posts from breeders.

I'm gonna cover many different species; dogs, horses, cats, sheep, cattle and more. If anyone has any suggestions on species or traits you want me to cover, just drop a comment.

Below is a link to a catalogue where I'm going to post links to each post I make so that it's easy to find the post you're looking for. The catalogue is going to have links to other, species specific catalogues, where I'm going to sort every post based on the type of mutations it covers.

I also have a link to an introductory genetics post below (coming soon)

Catalogue