Phenotypes associated with this allele

• Allele Symbol: Crb1^rd8
• Allele Name: retinal degeneration 8
• Allele ID: MGI:2676366
• Summary: 13 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Crb1^rd8/Crb1^rd8	B6.Cg-Crb1^rd8	MGI:3720010
hm2	Crb1^rd8/Crb1^rd8	B6.Cg-Crb1^rd8 Jak3^+/Boc	MGI:6258405
hm3	Crb1^rd8/Crb1^rd8	involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ	MGI:3720009
hm4	Crb1^rd8/Crb1^rd8	involves: C57BL/6N	MGI:5315452
hm5	Crb1^rd8/Crb1^rd8	STOCK Crb1^rd8/J	MGI:3581037
ht6	Crb1^rd8+em1Mvw/Crb1^rd8	C57BL/6NJ-Crb1^rd8+em1Mvw	MGI:5552735
cx7	Crb1^rd8/Crb1^rd8 Prkcq^tm1Litt/Prkcq^tm1Litt	B6.129P2-Prkcq^tm1Litt	MGI:5904137
cx8	Crb1^rd8/Crb1^rd8 Jak3^m1J/Jak3^m1J	B6.Cg-Crb1^rd8 Jak3^m1J/BocJ	MGI:6257345
cx9	Crb1^rd8/Crb1^rd8 rnv5/rnv5^+	B6N.Cg-rnv5/BocJ	MGI:7707433
cx10	Axin2^tm1Wbm/Axin2^tm1Wbm Crb1^rd8/?	involves: 129P2/OlaHsd * C57BL/6	MGI:6379321
cx11	Alpk1^em1Dlka/Alpk1^+ Crb1^rd8/Crb1^+	involves: C57BL/6J * C57BL/6N	MGI:7614876
cx12	Alpk1^em1Dlka/Alpk1^em1Dlka Crb1^rd8/Crb1^rd8	involves: C57BL/6N	MGI:7614873
cx13	Crb1^rd8/Crb1^+ rnv5/rnv5^+	Not Specified	MGI:7707445

Genotype
MGI:3720010

hm1

• Allelic Composition: Crb1^rd8/Crb1^rd8
• Genetic Background: B6.Cg-Crb1^rd8

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

vision/eye

vision/eye phenotype ( J:85459 )

N • Background Sensitivity: mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background

Genotype
MGI:6258405

hm2

• Allelic Composition: Crb1^rd8/Crb1^rd8
• Genetic Background: B6.Cg-Crb1^rd8 Jak3⁺/Boc

pigmentation

abnormal retina pigment epithelium morphology ( J:265859 )

abnormal retina pigmentation ( J:265859 )

cardiovascular system

abnormal retina vasculature morphology ( J:265859 )

retina neovascularization ( J:265859 )

vision/eye

abnormal retina morphology ( J:265859 )

• retinal neovascularization with retinal depigmentation spots are found by 1 month of age, a more mild phenotype that that found in mice also homozygous for a point mutation in Janus kinase 3

abnormal retina vasculature morphology ( J:265859 )

retina neovascularization ( J:265859 )

abnormal retina pigment epithelium morphology ( J:265859 )

abnormal retina pigmentation ( J:265859 )

retina spots ( J:265859 )

Genotype
MGI:3720009

hm3

• Allelic Composition: Crb1^rd8/Crb1^rd8
• Genetic Background: involves: C3HfB6/Ga * C57BL/6 * CAST/EiJ

vision/eye

abnormal retina morphology ( J:85459 )

• Background Sensitivity: 19% of mice do not display the spotting phenotype on a CAST/EiJ mixed background

Genotype
MGI:5315452

hm4

• Allelic Composition: Crb1^rd8/Crb1^rd8
• Genetic Background: involves: C57BL/6N

vision/eye

abnormal retina pigment epithelium morphology ( J:182353 )

• retinal pigment epithelium vacuolation

retina degeneration ( J:182353 )

• noninflammatory retinal degeneration is observed in the inner and outer nuclear layers, the outer plexiform layer and photoreceptor outer segments

• appearance of retinal lesions or spots is variable

• fundus lesions (spots) coalesce to form diffuse lesions or large patches and are visible by histological examination as early as 6 weeks of age

pigmentation

abnormal retina pigment epithelium morphology ( J:182353 )

• retinal pigment epithelium vacuolation

Genotype
MGI:3581037

hm5

• Allelic Composition: Crb1^rd8/Crb1^rd8
• Genetic Background: STOCK Crb1^rd8/J

vision/eye

abnormal ocular fundus morphology ( J:85459 )

• mice exhibit large, irregularly shaped spots concentrated in the inferior nasal quadrant of the fundus as early as week 3 that correspond to retinal folds and pseudorosettes

abnormal retina morphology ( J:85459 )

• retinal thinning in both the inner and outer segment is observed

abnormal Muller cell morphology ( J:85459 )

• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice

abnormal retina photoreceptor morphology ( J:85459 )

• the photoreceptor lamellae breaks down

decreased retina photoreceptor cell number ( J:85459 )

• in the region of focal degeneration photoreceptors are lost

abnormal photoreceptor inner segment morphology ( J:85459 )

• the photoreceptor inner segments lose their orderly arrangement

• by 5 months the inner segment approaches the retinal pigment epithelium

• swelling occurs in portions of the inner segments

short photoreceptor inner segment ( J:85459 )

• at 4 weeks the photoreceptor inner segments are 25% shorter

short photoreceptor outer segment ( J:85459 )

• the photoreceptor outer segments are shortened

photoreceptor outer segment degeneration ( J:85459 )

• by week 10 the outer segment begins to fragment

• by 5 months only a few outer segment fragments remain

thin retina outer nuclear layer ( J:85459 )

• in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei

abnormal retina outer limiting membrane morphology ( J:85459 )

• the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks

nervous system

abnormal Muller cell morphology ( J:85459 )

• Muller cells exhibit increased electron density and cytoplasmic strands that are more easily traced through the plexiform layer than in wild-type mice

abnormal retina photoreceptor morphology ( J:85459 )

• the photoreceptor lamellae breaks down

decreased retina photoreceptor cell number ( J:85459 )

• in the region of focal degeneration photoreceptors are lost

abnormal photoreceptor inner segment morphology ( J:85459 )

• the photoreceptor inner segments lose their orderly arrangement

• by 5 months the inner segment approaches the retinal pigment epithelium

• swelling occurs in portions of the inner segments

short photoreceptor inner segment ( J:85459 )

• at 4 weeks the photoreceptor inner segments are 25% shorter

short photoreceptor outer segment ( J:85459 )

• the photoreceptor outer segments are shortened

photoreceptor outer segment degeneration ( J:85459 )

• by week 10 the outer segment begins to fragment

• by 5 months only a few outer segment fragments remain

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Leber congenital amaurosis 8		DOID:0110079	OMIM:613835	J:171736

Genotype
MGI:5552735

ht6

• Allelic Composition: Crb1^rd8+em1Mvw/Crb1^rd8
• Genetic Background: C57BL/6NJ-Crb1^rd8+em1Mvw

vision/eye

vision/eye phenotype ( J:206789 )

N • this allele corrects the phenotype observed in mice carrying Crb1^rd8

N • mice do not exhibit ELM fragmentation, outer retinal dysplasia or altered F-actin structures

Genotype
MGI:5904137

cx7

• Allelic Composition: Crb1^rd8/Crb1^rd8; Prkcq^tm1Litt/Prkcq^tm1Litt
• Genetic Background: B6.129P2-Prkcq^tm1Litt

pigmentation

decreased eye pigmentation ( J:237977 )

vision/eye

decreased eye pigmentation ( J:237977 )

abnormal ocular fundus morphology ( J:237977 )

• by 10 months of age there are large confluent areas of depigmentation in addition to the retinal detachments

retina degeneration ( J:237977 )

retina detachment ( J:237977 )

• by 10 months of age

Genotype
MGI:6257345

cx8

• Allelic Composition: Crb1^rd8/Crb1^rd8; Jak3^m1J/Jak3^m1J
• Genetic Background: B6.Cg-Crb1^rd8 Jak3^m1J/BocJ

pigmentation

abnormal retina pigment epithelium morphology ( J:265859 )

abnormal retina pigmentation ( J:265859 )

endocrine/exocrine glands

small thymus ( J:265859 )

cardiovascular system

abnormal retina vasculature morphology ( J:265859 )

retina neovascularization ( J:265859 )

hematopoietic system

small thymus ( J:265859 )

small spleen ( J:265859 )

decreased spleen weight ( J:265859 )

immune system

small thymus ( J:265859 )

small spleen ( J:265859 )

decreased spleen weight ( J:265859 )

vision/eye

abnormal retina morphology ( J:265859 )

• at 18 days of age there are areas of retinal depigmentation lacking fluorescein leakage, the number and size of spots increases and some fluorescein leakage is found at 25 days of age, by 3 weeks of age subretinal vascularization and disturbance of the outer retina are found, and eventually the depigmented spots become large areas of depigmentation with aberrant blood vessels spaning from the retinal pigment epithelium to the inner nuclear layer accompanied by photoreceptor cell degeneration

abnormal retina vasculature morphology ( J:265859 )

retina neovascularization ( J:265859 )

abnormal retina pigment epithelium morphology ( J:265859 )

abnormal retina pigmentation ( J:265859 )

retina spots ( J:265859 )

abnormal electroretinogram waveform feature ( J:265859 )

abnormal eye electrophysiology ( J:265859 )

• electroretinograms show a slight reduction in scotopic and photopic responses at 8 weeks of age and larger reduction at 8 months of age

abnormal cone electrophysiology ( J:265859 )

abnormal rod electrophysiology ( J:265859 )

Genotype
MGI:7707433

cx9

• Allelic Composition: Crb1^rd8/Crb1^rd8; rnv5/rnv5⁺
• Genetic Background: B6N.Cg-rnv5/BocJ

Significant retinal neovascularization in Crb1^rd8/Crb1^rd8 \AlleleSymbolMGI(7707431|0)/rnv5⁺ mice by 4 weeks of age

vision/eye

retina neovascularization ( J:352529 )

• neovascularization by 3 weeks of age

cardiovascular system

retina neovascularization ( J:352529 )

• neovascularization by 3 weeks of age

Genotype
MGI:6379321

cx10

• Allelic Composition: Axin2^tm1Wbm/Axin2^tm1Wbm; Crb1^rd8/?
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

vision/eye

small lens ( J:254591 )

• in 3 of 4 mice

abnormal optic cup morphology ( J:254591 )

• ectopic expansion of the optic cup periphery that acquires a peripheral retina fate as determined by marker staining

coloboma ( J:254591 )

• failure of the optic fissure to close

• however, mice exhibit normal retina lamination and apicobasal polarity of the basement membrane

Genotype
MGI:7614876

cx11

• Allelic Composition: Alpk1^em1Dlka/Alpk1⁺; Crb1^rd8/Crb1⁺
• Genetic Background: involves: C57BL/6J * C57BL/6N

vision/eye

vision/eye phenotype ( J:344848 )

N • normal fundus morphology and ERG amplitudes at age 9 and 12 months

Genotype
MGI:7614873

cx12

• Allelic Composition: Alpk1^em1Dlka/Alpk1^em1Dlka; Crb1^rd8/Crb1^rd8
• Genetic Background: involves: C57BL/6N

growth/size/body

growth/size/body region phenotype ( J:344848 )

N • normal body and spleen weight at age 6, 12 and 16 weeks

homeostasis/metabolism

abnormal circulating chemokine level ( J:344848 )

• increased serum CXCL1 and CCL2 levels at age 2 and 3 months

increased circulating CXCL10 level ( J:344848 )

• increased serum CXCL10 levels at age 2 and 3 months

immune system

immune system phenotype ( J:344848 )

N • normal spleen weight at age 6, 12 and 16 weeks

abnormal circulating chemokine level ( J:344848 )

• increased serum CXCL1 and CCL2 levels at age 2 and 3 months

increased circulating CXCL10 level ( J:344848 )

• increased serum CXCL10 levels at age 2 and 3 months

Genotype
MGI:7707445

cx13

• Allelic Composition: Crb1^rd8/Crb1⁺; rnv5/rnv5⁺
• Genetic Background: Not Specified

vision/eye

vision/eye phenotype ( J:352529 )

N • No abnormal ocular phenotype in rnv5 carriers that are heterozygous for the rd8 allele