Phenotypes associated with this allele

• Allele Symbol: Crx^em1Smgc
• Allele Name: endonuclease-mediated mutation 1, Shiming Chen
• Allele ID: MGI:7576952
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Crx^em1Smgc/Crx^em1Smgc	C57BL/6J-Crx^em1Smgc	MGI:7577435
ht2	Crx^em1Smgc/Crx^+	C57BL/6J-Crx^em1Smgc	MGI:7577436

Genotype
MGI:7577435

hm1

• Allelic Composition: Crx^em1Smgc/Crx^em1Smgc
• Genetic Background: C57BL/6J-Crx^em1Smgc

• ♀: 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 )

N • relatively normal retina INL, IPL and GCL

absent photoreceptor outer segment ( J:343281 )

• at age P21

abnormal retina progenitor cell morphology ( J:343281 )

• premature rhodopsin expression in the presumptive retinal ONL layer at P3

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:7577436

ht2

• Allelic Composition: Crx^em1Smgc/Crx⁺
• Genetic Background: C57BL/6J-Crx^em1Smgc

vision/eye

vision/eye phenotype ( J:343281 )

N • relatively normal retina INL, IPL and GCL

N • retina OS present

abnormal retina progenitor cell morphology ( J:343281 )

• premature rhodopsin expression in the outer part of retinal ONBL (outer neuroblast layer) layer at P3

disorganized retina outer nuclear layer ( J:343281 )

• waves, whorls and rosettes at age P21

decreased a-wave amplitude ( J:343281 )

• reduced dark-adapted ERG A-wave amplitude in response to light stimuli at age 1 month

decreased b-wave amplitude ( J:343281 )

• reduced dark-adapted ERG B-wave amplitude in response to light stimuli at age 1 month

abnormal cone electrophysiology ( J:343281 )

• no light-adapted B-wave ERG responses to light stimuli at age 1 month

abnormal rod electrophysiology ( J:343281 )

• reduced dark-adapted ERG A- and B-wave amplitudes in response to light stimuli at age 1 month

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cone-rod dystrophy 2		DOID:0111005	OMIM:120970	J:343281