Phenotypes associated with this allele

• Allele Symbol: Stra6^tm1Nbg
• Allele Name: targeted mutation 1, Norbert B Ghyselinck
• Allele ID: MGI:5490784
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Stra6^tm1Nbg/Stra6^tm1Nbg	involves: 129 * C57BL/6J	MGI:5490888
hm2	Stra6^tm1Nbg/Stra6^tm1Nbg	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5532516
cx3	Lrat^tm1.1Bok/Lrat^tm1.1Bok Stra6^tm1Nbg/Stra6^tm1Nbg	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5532517

Genotype
MGI:5490888

hm1

• Allelic Composition: Stra6^tm1Nbg/Stra6^tm1Nbg
• Genetic Background: involves: 129 * C57BL/6J

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

vision/eye

decreased retina cone cell number ( J:196841 )

• at 6 weeks and worse at 5 months

short photoreceptor inner segment ( J:196841 )

short photoreceptor outer segment ( J:196841 )

persistent hyperplastic primary vitreous ( J:196841 )

• through 10 months of age

microphthalmia ( J:196841 )

• slight reduction in eye diameter at 6 weeks that persists at 5 and 10 months

abnormal cone electrophysiology ( J:196841 )

• reduced b-wave cone response that does not change with age

abnormal rod electrophysiology ( J:196841 )

• reduced scotopic a- and b-wave amplitudes even in mice with unilateral persistent hyperplastic primary vitreous

homeostasis/metabolism

abnormal retinol level ( J:196841 )

• amounts of all-trans-retinal and other retinol derivatives are reduced in the retinal pigment epithelium and retina

• however, dark-adaptation allows for partial regeneration of 11-cis-RAL levels

nervous system

decreased retina cone cell number ( J:196841 )

• at 6 weeks and worse at 5 months

short photoreceptor inner segment ( J:196841 )

short photoreceptor outer segment ( J:196841 )

Genotype
MGI:5532516

hm2

• Allelic Composition: Stra6^tm1Nbg/Stra6^tm1Nbg
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

mortality/aging ( J:203449 )

N • no mice are recovered at E14.5 from homozygous female fed a vitamin A-deficient diet as in wild-type mice

homeostasis/metabolism

improved glucose tolerance ( J:203449 )

• in mice fed a high fat, high sucrose diet

increased insulin sensitivity ( J:203449 )

• in mice fed a high fat, high sucrose diet

abnormal protein level ( J:203449 )

• retinoid levels are severely depleted in the retinal pigment epithelium compared with wild-type mice

• mice fed a vitamin A-deficient diet exhibit somewhat lower total retinoid levels in the white adipose tissue, kidney, heart and testis due to reduced uptake compared with wild-type mice

• however, retinoid levels in most tissues are normal

adipose tissue

abnormal adipocyte glucose uptake ( J:203449 )

• pretreatment with holo-retinol-binding protein has no effect on insulin-stimulated glucose uptake in adipose cells unlike in wild-type cells

vision/eye

abnormal retina pigment epithelium morphology ( J:203449 )

• retinoid levels are severely depleted in the retinal pigment epithelium compared with wild-type mice

embryo

embryo phenotype ( J:203449 )

N • mice exposed to excessive retinol exhibit expected defects

pigmentation

abnormal retina pigment epithelium morphology ( J:203449 )

• retinoid levels are severely depleted in the retinal pigment epithelium compared with wild-type mice

cellular

abnormal adipocyte glucose uptake ( J:203449 )

• pretreatment with holo-retinol-binding protein has no effect on insulin-stimulated glucose uptake in adipose cells unlike in wild-type cells

Genotype
MGI:5532517

cx3

• Allelic Composition: Lrat^tm1.1Bok/Lrat^tm1.1Bok; Stra6^tm1Nbg/Stra6^tm1Nbg
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

embryo

embryo phenotype ( J:203449 )

N • mice exposed to excessive retinol exhibit defects as in Lrat^tm1.1Bok homozygotes