Domestic animals as models for biomedical research

Figures & data

Table I. Genes and mutations associated with phenotypic traits in domestic animals.

Phenotype	Gene	Mutation identified	Type of mutation^a	Ref.
Horse
Chestnut coat colour	MC1R	Yes	Missense	(48)
Roan coat colour	KIT	No	Non-coding	(49)
Silver coat colour	PMEL	Yes	Missense	(50)
Greying with age	STX17	Yes	4.6 kb duplication	(51)
Gait	DMRT3	Yes	Nonsense	(44)
Pig
Dominant white colour	KIT	Yes	Duplication + splice mutation	(13,52–55)
Patch coat colour	KIT	Yes	Duplication	(13,52,54,55)
Belt coat colour	KIT	Yes	Duplication(s)	(55,56)
Dominant black colour	MC1R	Yes	Missense	(57)
Recessive red colour	MC1R	Yes	Missense	(57)
Black spotting	MC1R	Yes	2 bp insertion + missense	(15)
Black-and-tan coat colour	ASIP	No	Non-coding	(58)
Hypercholesterolemia	LDLR	Yes	Missense	(5)
Muscle glycogen content	PRKAG3	Yes	Missense	(27)
Muscle growth	IGF2	Yes	SNP	(37)
Chicken
Dominant black colour	MC1R	Yes	Missense	(59)
Buttercup colour	MC1R	Yes	Missense	(59)
Dominant white colour and feather pecking	PMEL	Yes	9 bp insertion	(16,60)
Dun colour	PMEL	Yes	15 bp deletion	(16)
Smoky colour	PMEL	Yes	9 bp insertion + 12 bp deletion	(16)
Silver	SLC45A2	Yes	Missense	(61)
Sex-linked imperfect albinism	SLC45A2	Yes	1 bp insertion	(61)
Sex-linked barring	CDKN2A/B	Yes	Non-coding + missense	(62)
Dark brown colour	SOX10	Yes	8.3 kb deletion	(12)
Yellow skin	BCDO2	No	Non-coding	(63)
Fibromelanosis	EDN3	Yes	Duplications	(64)
Silky feather	PDSS2	Yes	SNP	(65)
Pea-comb	SOX5	Yes	CNV	(66)
Rose-comb	MNR2	Yes	7.4 Mb inversion	(4)
Sperm motility	CCDC108	Yes	7.4 Mb inversion	(4)
Duplex comb	EOMES	Yes	20 kb duplication	(67)
Crested	HOXC8	No	Non-coding	(68)
Growth	SH3RF2	Yes	Deletion	(14)
Dog
Leukocyte adhesion deficiency	ITGB2	Yes	Missense	(6)
White spotting (S)^b	MITF	Yes	Non-coding	(7,69)
Dorsal hair ridge	Multiple	Yes	133 kb duplication	(70)
Sensory ataxic neuropathy	mt_tRNA^Tyr	Yes	1 bp deletion	(71)
Shar-pei fever	HAS2	Yes	Duplication	(72)
Cattle
Fishy off-flavour	FMO3	Yes	Nonsense	(8)
Dominant red colour	COPA	Yes	Missense	(73)
Water buffalo
White spotting	MITF	Yes	Nonsense	(74)
White spotting	MITF	Yes	Splice site	(74)
Japanese quail
Cinnamon colour	SLC45A2	Yes	Missense	(61)
Sex-linked imperfect albinism	SLC45A2	Yes	Splice site	(61)

^aMutations in coding sequences are in bold.

^bThere are four alleles at this locus: Solid (wild-type), Irish spotting, Piebald, and Extreme white. Our data suggest that these are caused by different combinations of non-coding mutations.

CNV = copy number variation.

Winner of the Rudbeck Award 2013, at the Medical Faculty of Uppsala University for his pioneering studies of the pathogenesis of many non-communicable diseases by means of molecular and animal genetics.

Figure 2. Gaits in horses. (a–e): Different gaits performed by an Icelandic horse. (a): walk; (b): trot; (c): gallop; (d): tölt; and (e): pace. Photos: Freyja Imsland. (f): ‘Bronze pacing horse poised on a swallow with wings outstretched’, bronze sculpture from Eastern Han Dynasty, about 200 AD. Photo: Erik Cornelius, Museum of Far Eastern Antiquities, Stockholm.

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