Crygb<S11R> Spontaneous Allele Detail MGI Mouse (MGI:3777015)

Crygb^S11R
Spontaneous Allele Detail

Summary

Symbol:	Crygb^S11R
Name:	crystallin, gamma B; S11R
MGI ID:	MGI:3777015
Gene:	Crygb Location: Chr1:65119381-65121449 bp, - strand Genetic Position: Chr1, 32.82 cM
Alliance:	Crygb^S11R page

Mutation
origin

Strain of Origin:

A/J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Single point mutation
		Mutation details: A T-to-G (A-to-C on negative gene strand) point mutation in codon 11 results in the substitution of serine with arginine at position 11 (p.S11R). (J:132502)
Inheritance:		Dominant

Phenotypes

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available Cell Lines: 0 lines available
Carrying any Crygb Mutation:	15 strains or lines available

References

Original:	J:132502 Li L, et al., Dense nuclear cataract caused by the gammaB-crystallin S11R point mutation. Invest Ophthalmol Vis Sci. 2008 Jan;49(1):304-9
All:	4 reference(s)

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