Phenotypes Associated with This Genotype

Genotype
MGI:6386739

• Allelic Composition: Spata7^tm1Mrd/Spata7^tm2Mrd; Tg(Crx-cre)1Tfur/0
• Genetic Background: involves: 129S7/SvEvBrd

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

vision/eye

retina photoreceptor degeneration ( J:279827 )

• progressive degeneration that is significant at P28 that is not as pronounced as in Spata7^tm2Mrd homozygotes

thin retina outer nuclear layer ( J:279827 )

• 30% reduction at P28

• 8 rows at 4 months compared with 13 in control mice

• 4 rows at 7 months compared with 13 in control mice

abnormal cone electrophysiology ( J:279827 )

• reduced b-wave at P28 and 4 months

abnormal rod electrophysiology ( J:279827 )

• reduced a-wave at P28

• reduced a-wave and b-wave at 4 months

nervous system

retina photoreceptor degeneration ( J:279827 )

• progressive degeneration that is significant at P28 that is not as pronounced as in Spata7^tm2Mrd homozygotes

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 3		DOID:0110331	OMIM:604232	J:279827