Crb1<rd8> Spontaneous Allele Detail MGI Mouse (MGI:2676366)

Crb1^rd8
Spontaneous Allele Detail

Nomenclature

Symbol:	Crb1^rd8
Name:	crumbs homolog 1 (Drosophila); retinal degeneration 8
MGI ID:	MGI:2676366
Synonyms:	nmf144
Gene:	Crb1 Location: Chr1:141093633-141273677 bp, - strand Genetic Position: Chr1, 73.0 cM

Mutation
origin

Strain of Origin:

C57BL/6J

Mutation
description

Allele Type:	Spontaneous
Mutation:	Intragenic deletion
	The mutation in the rd8 mouse has been identified as a single base deletion in the Crb1 gene. This deletion causes a frame shift and a premature stop codon that truncates the transmembrane and cytoplasmic domain of the protein. (J:85459)
Inheritance:	Recessive

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)

Carrying this Mutation:	Mouse Strains: 3 strains available Cell Lines: 0 lines available
Carrying any Crb1 Mutation:	3 strains or lines available

Phenotype
summary

Phenotype Summary by Mammalian Phenotype terms

(show or hide all annotated terms)

Genotypes are listed in the next section.

Key:

hm	homozygous	ht	heterozygous
cn	conditional genotype	cx	complex: > 1 genome feature
tg	involves transgenes	ot	other: hemizygous, indeterminate,...
N	normal phenotype		expected model not found

Affected Systems	Genotypes:	hm1	hm2	hm3
nervous system				√
abnormal Muller cell morphology				√
abnormal retinal photoreceptor morphology				√
decreased retinal photoreceptor cell number				√
abnormal photoreceptor inner segment morphology				√
short photoreceptor inner segment				√
photoreceptor outer segment degeneration				√
short photoreceptor outer segment				√
		hm1	hm2	hm3
vision/eye		N	√	√
vision/eye phenotype		N
abnormal ocular fundus morphology				√
abnormal retina morphology			√	√
abnormal Muller cell morphology				√
abnormal retinal photoreceptor morphology				√
decreased retinal photoreceptor cell number				√
abnormal photoreceptor inner segment morphology				√
short photoreceptor inner segment				√
photoreceptor outer segment degeneration				√
short photoreceptor outer segment				√
thin retinal outer nuclear layer				√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype	Allelic Composition	Genetic Background
hm1	Crb1^rd8/Crb1^rd8	B6.Cg-Crb1^rd8
vision/eye vision/eye phenotype (J:85459) Background Sensitivity: mice no longer display the spotting phenotype when backcrossed from a CAST/EiJ background onto a C57BL/6 background
Genotype	Allelic Composition	Genetic Background
hm2	Crb1^rd8/Crb1^rd8	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	Allelic Composition	Genetic Background
hm3	Crb1^rd8/Crb1^rd8	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 the external limiting membrane in the retina is fragmented and disorganized at 2 weeks and is more severe at 4 weeks 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 retinal photoreceptor morphology (J:85459) the photoreceptor lamellae breaks down decreased retinal 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 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 short photoreceptor outer segment (J:85459) the photoreceptor outer segments are shortened thin retinal outer nuclear layer (J:85459) in older mice, the retinal outer nuclear layer is reduced to a single row of nuclei 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 retinal photoreceptor morphology (J:85459) the photoreceptor lamellae breaks down decreased retinal 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 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 short photoreceptor outer segment (J:85459) the photoreceptor outer segments are shortened

References

Original:	J:85459 Mehalow AK et al., "CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina." Hum Mol Genet 2003 Sep 1;12(17):2179-89
All:	2 reference(s)

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