All Phenotypes Crb1<rd8> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Crb1^rd8
retinal degeneration 8
MGI:2676366

Summary

11 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	Axin2^tm1Wbm/Axin2^tm1Wbm Crb1^rd8/?	involves: 129P2/OlaHsd * C57BL/6	MGI:6379321
cx10	Alpk1^em1Dlka/Alpk1⁺ Crb1^rd8/Crb1⁺	involves: C57BL/6J * C57BL/6N	MGI:7614876
cx11	Alpk1^em1Dlka/Alpk1^em1Dlka Crb1^rd8/Crb1^rd8	involves: C57BL/6N	MGI:7614873

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)

♀	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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)

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

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 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)

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

vision/eye

abnormal retina morphology ( J:85459 )

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)
Crb1^rd8+em1Mvw mutation (1 available); any Crb1 mutation (88 available)

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

vision/eye

vision/eye phenotype ( J:206789 )

N	• this allele corrects the phenotype observed in mice carrying Crb1^rd8 • mice do not exhibit ELM fragmentation, outer retinal dysplasia or altered F-actin structures

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)
Prkcq^tm1Litt mutation (3 available); any Prkcq mutation (51 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)
Jak3^m1J mutation (8 available); any Jak3 mutation (84 available)

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

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 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Axin2^tm1Wbm mutation (2 available); any Axin2 mutation (43 available)
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)

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

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

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Alpk1^em1Dlka mutation (0 available); any Alpk1 mutation (76 available)
Crb1^rd8 mutation (17 available); any Crb1 mutation (88 available)

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

vision/eye

vision/eye phenotype ( J:344848 )

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

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

Find Mice

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

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

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