Phenotypes associated with this allele

• Allele Symbol: Oat^rhg
• Allele Name: retarded hair growth
• Allele ID: MGI:1857018
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Oat^rhg/Oat^rhg	B6Ei;AKR-Oat^rhg/J	MGI:3838967
hm2	Oat^rhg/Oat^rhg	involves: AKR/J	MGI:3838880
ht3	Oat^rhg/Oat^tm1Dva	involves: 129S7/SvEvBrd * AKR/J * C57BL/6J * C57BL/6JEi	MGI:6162527
cx4	Fgfr2^tm1.1Dor/Oat^rhg	involves: AKR/J * C57BL/6J * C57BL/6JEi * FVB/N	MGI:6162253
cx5	Oat^rhg/Prss8^fr	involves: AKR/J * C57BL/6JEi * FS/EiJ	MGI:6162250

Genotype
MGI:3838967

hm1

• Allelic Composition: Oat^rhg/Oat^rhg
• Genetic Background: B6Ei;AKR-Oat^rhg/J

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

Small size and retarded hair growth in Oat^rhg/Oat^rhg mice

nervous system

short photoreceptor outer segment ( J:213842 )

• somewhat shortened and disorganized at 12 months of age

mortality/aging

preweaning lethality, incomplete penetrance ( J:147337 )

• breeding heterozygotes with homozygotes yields only 41% mutant offspring rather than the predicted 50%

growth/size/body

decreased body size ( J:147337 )

• although normal size at birth, homozygotes are smaller than littermates shortly thereafter then begin to catch up in size at 4 weeks of age

pigmentation

abnormal coat/hair pigmentation ( J:147337 )

• at one week of age homozygotes have no pigment, and older homozygotes have white at the tips of the hair

retina pigment epithelium atrophy ( J:213842 )

• at 12 months of age the retinal pigment epithelium shows degeneration with irregular swelling and frequent doming, with occassional migration of retinal pigment epithelial cells into the outer segment layer

homeostasis/metabolism

increased circulating ornithine level ( J:213842 )

• plasma ornithine is increased to approximately 1000 uM

decreased circulating thyroxine level ( J:147337 )

decreased circulating alkaline phosphatase level ( J:147337 )

decreased circulating amylase level ( J:147337 )

decreased circulating serum albumin level ( J:147337 )

vision/eye

short photoreceptor outer segment ( J:213842 )

• somewhat shortened and disorganized at 12 months of age

retina pigment epithelium atrophy ( J:213842 )

• at 12 months of age the retinal pigment epithelium shows degeneration with irregular swelling and frequent doming, with occassional migration of retinal pigment epithelial cells into the outer segment layer

cataract ( J:147337 )

• cataracts are found 2 month and 3.5 month old homozygotes

hearing/vestibular/ear

hearing/vestibular/ear phenotype ( J:147337 )

N • two of two homozygotes assessed show normal auditory brain stem response

integument

abnormal coat/hair pigmentation ( J:147337 )

• at one week of age homozygotes have no pigment, and older homozygotes have white at the tips of the hair

retarded hair growth ( J:147337 )

• at two weeks of age homozygotes still have no hair and hair begins to grow in at 3 weeks of age

ruffled hair ( J:147337 )

• after 1 month of age the fur has a ruffled appearance due to growing in different directions

abnormal hair follicle morphology ( J:147337 )

• follicular dysplasia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
gyrate atrophy		DOID:1415	OMIM:258870	J:213842

Genotype
MGI:3838880

hm2

• Allelic Composition: Oat^rhg/Oat^rhg
• Genetic Background: involves: AKR/J

growth/size/body

decreased body size ( J:13745 )

• at birth homozygotes are smaller than their littermates

integument

retarded hair growth ( J:13745 )

• hair development is retarded at 3 weeks of age, but similar to that of unaffected littermates by 10 weeks of age

Genotype
MGI:6162527

ht3

• Allelic Composition: Oat^rhg/Oat^tm1Dva
• Genetic Background: involves: 129S7/SvEvBrd * AKR/J * C57BL/6J * C57BL/6JEi

integument

retarded hair growth ( J:213842 )

growth/size/body

decreased body size ( J:213842 )

• delayed growth by 7 days of age, which can be ameliorated by i.p. injection of arginine

nervous system

short photoreceptor outer segment ( J:213842 )

• somewhat shortened and disorganized at 12 months of age

homeostasis/metabolism

increased circulating ornithine level ( J:213842 )

• plasma ornithine is increased to approximately 1200 uM

pigmentation

retina pigment epithelium atrophy ( J:213842 )

mortality/aging

preweaning lethality, incomplete penetrance ( J:213842 )

• only 70% of compound heterozygotes survive to weaning without arginine supplementation, and 45% of compound heterozygotes die before one year

vision/eye

short photoreceptor outer segment ( J:213842 )

• somewhat shortened and disorganized at 12 months of age

retina pigment epithelium atrophy ( J:213842 )

Genotype
MGI:6162253

cx4

• Allelic Composition: Fgfr2^tm1.1Dor/Oat^rhg
• Genetic Background: involves: AKR/J * C57BL/6J * C57BL/6JEi * FVB/N

normal phenotype

no abnormal phenotype detected ( J:213842 )

• double heterozygotes have normal vibrissae, fur and overall growth rate

Genotype
MGI:6162250

cx5

• Allelic Composition: Oat^rhg/Prss8^fr
• Genetic Background: involves: AKR/J * C57BL/6JEi * FS/EiJ

normal phenotype

no abnormal phenotype detected ( J:213842 )

• double heterozygotes complement, having normal vibrissae, fur, and body size