Phenotypes associated with this allele

• Allele Symbol: Crx^tm1.1Smgc
• Allele Name: targeted mutation 1.1, Shiming Chen
• Allele ID: MGI:5621024
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Crx^tm1.1Smgc/Crx^tm1.1Smgc	B6.129X1(CBA)-Crx^tm1.1Smgc	MGI:5702298
ht2	Crx^tm1.1Smgc/Crx^+	B6.129X1(CBA)-Crx^tm1.1Smgc	MGI:5702299

Genotype
MGI:5702298

hm1

• Allelic Composition: Crx^tm1.1Smgc/Crx^tm1.1Smgc
• Genetic Background: B6.129X1(CBA)-Crx^tm1.1Smgc

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

Crx^tm1.1Smgc/Crx^tm1.1Smgc, Crx^tm2.1Smgc/Crx^tm2.1Smgc, and Crx^tm1Clc/Crx^tm1Clc mice develop Leber Congenital Amaurosis-like retinopathy

vision/eye

vision/eye phenotype ( J:211011 )

N • normal lamellar formation of the retina at 14 days of age

abnormal retina layer morphology ( J:211011 )

absent photoreceptor outer segment ( J:211011 )

• no outer segment formation at 14 days through 3 months

retina outer nuclear layer degeneration ( J:211011 )

• loss of outer layer nuclei starting around 1 month

• only 3-4 rows at 1 month compared to about 12 rows in controls

• 2-3 rows at 3 months

• apoptosis at 21 days of age becoming less by 35 days

abnormal electroretinogram waveform feature ( J:211011 )

• no light or dark adapted responses

nervous system

absent photoreceptor outer segment ( J:211011 )

• no outer segment formation at 14 days through 3 months

Genotype
MGI:5702299

ht2

• Allelic Composition: Crx^tm1.1Smgc/Crx⁺
• Genetic Background: B6.129X1(CBA)-Crx^tm1.1Smgc

Crx^tm1.1Smgc/Crx⁺ but not Crx^tm2.1Smgc/Crx⁺ develop dominant retinopathy

vision/eye

abnormal retina layer morphology ( J:211011 )

short retina rod cell outer segment ( J:211011 )

• shortening of the rod outer segments at 14 days of age and persisting through 6 months

abnormal retina cone cell morphology ( J:211011 )

• cones are displaced inward in the outer nuclear layer

• disrupted pattern of distribution of opsins and reduced levels

decreased retina cone cell number ( J:211011 )

• reduced 67.7% in number at 1 month of age

abnormal retina outer nuclear layer morphology ( J:211011 )

• chromatin pattern in rod nuclei is less condensed

abnormal retina outer nuclear layer thickness ( J:211011 )

• some thickening at P14 at points proximal to the optic nerve head

• fewer rows in the outer nuclear layer at 3 months, 6-8 rows

• increased apoptosis at 3 months

abnormal electroretinogram waveform feature ( J:211011 )

decreased a-wave amplitude ( J:211011 )

• dark adapted A waves are detected at 1 month of age but with a reduced amplitude

• peak amplitudes are progressively smaller at 3 and 6 months

decreased b-wave amplitude ( J:211011 )

• dark adapted B waves are detected at 1 month of age but with a reduced amplitude

• peak amplitudes are progressively smaller at 3 and 6 months

• light adapted B waves are barely detected at 1 month of age

nervous system

short retina rod cell outer segment ( J:211011 )

• shortening of the rod outer segments at 14 days of age and persisting through 6 months

abnormal retina cone cell morphology ( J:211011 )

• cones are displaced inward in the outer nuclear layer

• disrupted pattern of distribution of opsins and reduced levels

decreased retina cone cell number ( J:211011 )

• reduced 67.7% in number at 1 month of age