Phenotypes associated with this allele

• Allele Symbol: Crx^em2Smgc
• Allele Name: endonuclease-mediated mutation 2, Shiming Chen
• Allele ID: MGI:7576954
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Crx^em2Smgc/Crx^em2Smgc	C57BL/6J-Crx^em2Smgc	MGI:7577438
ht2	Crx^em2Smgc/Crx^+	C57BL/6J-Crx^em2Smgc	MGI:7577439

Genotype
MGI:7577438

hm1

• Allelic Composition: Crx^em2Smgc/Crx^em2Smgc
• Genetic Background: C57BL/6J-Crx^em2Smgc

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

nervous system

absent photoreceptor outer segment ( J:343281 )

• at age P21

vision/eye

vision/eye phenotype ( J:343281 )

• relatively normal retina INL, IPL and GCL

absent photoreceptor outer segment ( J:343281 )

• at age P21

disorganized retina outer nuclear layer ( J:343281 )

• waves, whorls and rosettes at age P21

absent visual evoked potential ( J:343281 )

• no dark- or light-adapted ERG responses to light stimuli at age 1 month

binocular blindness ( J:343281 )

• at age 1 month

Genotype
MGI:7577439

ht2

• Allelic Composition: Crx^em2Smgc/Crx⁺
• Genetic Background: C57BL/6J-Crx^em2Smgc

nervous system

absent photoreceptor outer segment ( J:343281 )

• at age P21

vision/eye

vision/eye phenotype ( J:343281 )

• relatively normal retina INL, IPL and GCL

absent photoreceptor outer segment ( J:343281 )

• at age P21

disorganized retina outer nuclear layer ( J:343281 )

• waves, whorls and rosettes at age P21

absent visual evoked potential ( J:343281 )

• no dark- or light-adapted ERG responses to light stimuli at age 1 month

binocular blindness ( J:343281 )

• at age 1 month

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 7		DOID:0110333	OMIM:613829	J:343281