Phenotypes Associated with This Genotype

Genotype
MGI:3038727

• Allelic Composition: Rpgr^tm1Tili/Rpgr^tm1Tili; Tg(CMV-Rpgr)1Tili/0
• Genetic Background: involves: 129S4/SvJae * C57BL/6

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

vision/eye

abnormal retina morphology ( J:87299 )

♀

retina degeneration ( J:87299 )

♀ • retinal degeneration occurs very rapidly

♀ • 50% of photoreceptors are lost by 40 days of age as opposed to 2 years for Rpgr null homozygotes

abnormal eye physiology ( J:87299 )

♀ • dark adapted rod EGRs were reduced at 40 days of age

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
X-linked cone-rod dystrophy 1		DOID:0111008	OMIM:304020	J:87299