Phenotypes Associated with This Genotype

Genotype
MGI:3838967

• 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