Phenotypes associated with this allele

• Allele Symbol: Rbp4^tm2Zhel
• Allele Name: targeted mutation 2, Zhenghua Li
• Allele ID: MGI:6196354
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rbp4^tm2Zhel/Rbp4^tm2Zhel	B6J.B6N(CBA)-Rbp4^tm2Zhel	MGI:6383057

Genotype
MGI:6383057

hm1

• Allelic Composition: Rbp4^tm2Zhel/Rbp4^tm2Zhel
• Genetic Background: B6J.B6N(CBA)-Rbp4^tm2Zhel

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

vision/eye

abnormal ocular fundus morphology ( J:260684 )

• persistent hyaloid artery, retinal depigmentation and optic disc abnormalities at age 7, 24 and 40 weeks

abnormal retina morphology ( J:260684 )

• vacuolization and formation of multiple layers of hypopigmented retinal pigment cells in retinal pigment epithelium and choroidal loss in peripheral retina at age 40 weeks

• large, irregular, macrophage-like cells between inner nuclear layer (INL) and retinal pigment epithelium (RPE) in regions of severe photoreceptor loss in peripheral retina at age 40 weeks

short photoreceptor outer segment ( J:260684 )

• normal in central retina at age 40 weeks

• in peripheral retina at age 40 weeks

abnormal retina pigment epithelium morphology ( J:260684 )

• vacuolization and formation of multiple layers of hypopigmented retinal pigment cells in peripheral retina at age 40 weeks

thin retina ganglion layer ( J:260684 )

• reduced cell number in peripheral retina at age 40 weeks

• normal in central retina at age 40 weeks

thin retina outer nuclear layer ( J:260684 )

• normal in central retina at age 40 weeks

• in peripheral retina at age 40 weeks

retina outer nuclear layer degeneration ( J:260684 )

• in peripheral retina at age 40 weeks

• normal in central retina at age 40 weeks

decreased total retina thickness ( J:260684 )

• in peripheral retina at age 40 weeks

• normal in central retina at age 40 weeks

increased a-wave implicit time ( J:260684 )

• with scotopic ERG at age 7 weeks

• recovered by age 40 weeks

increased b-wave implicit time ( J:260684 )

• recovered by age 40 weeks

• with scotopic ERG at age 7 weeks

decreased a-wave amplitude ( J:260684 )

• with scotopic ERG at age 7, 14, 24 and 40 weeks

decreased b-wave amplitude ( J:260684 )

• with scotopic ERG at age 7, 14, 24 and 40 weeks

nervous system

short photoreceptor outer segment ( J:260684 )

• normal in central retina at age 40 weeks

• in peripheral retina at age 40 weeks

pigmentation

abnormal retina pigment epithelium morphology ( J:260684 )

• vacuolization and formation of multiple layers of hypopigmented retinal pigment cells in peripheral retina at age 40 weeks

homeostasis/metabolism

abnormal retinol level ( J:260684 )

• no serum retinol detected at age 8 and 30 weeks

• increased retinol accumulation in liver at age 30 weeks

• normal retinol level in liver at age 8 weeks