Mip<Cat-Fr> Spontaneous Allele Detail MGI Mouse (MGI:1857104)

Mip^Cat-Fr
Spontaneous Allele Detail

Summary

Symbol:	Mip^Cat-Fr
Name:	major intrinsic protein of lens fiber; dominant cataract Fraser
MGI ID:	MGI:1857104
Synonyms:	Cat⁶⁰, shrivelled, Svl
Gene:	Mip Location: Chr10:128061707-128067681 bp, + strand Genetic Position: Chr10, 76.49 cM, cytoband D1
Alliance:	Mip^Cat-Fr page

Mutation
origin

Strain of Origin:

A/J

Mutation
description

Allele Type:		Spontaneous
Mutation:		Transposon insertion
		Mutation details: A transposon-induced error in splicing introduces a long terminal repeat sequence replacing the normal carboxy terminus in mutant mice. (J:5045, J:31574)
Inheritance:		Semidominant

Phenotypes

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

Disease models

Expression

In Mice Carrying this Mutation:	5 assay results
In Structures Affected by this Mutation:	2 anatomical structure(s)

Find Mice (IMSR)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available Cell Lines: 0 lines available
Carrying any Mip Mutation:	33 strains or lines available

Notes

In chimeric embryos formed between a strain of mice homozygous for Mip^Cat-Fr and the DBA/2 strain, homozygous for the wild-type Mip allele, the lens is histologically, cellularly, and biochemically normal (J:35863). A study of the lens crystallins shows a decrease in the proportion of a-crystallins and an increase in the proportion of a-crystallins (J:6987). At birth, a-crystallin mRNAs are present in nearly normal amounts and functional capacity but are selectively lost by 40 days of age. The effect is more severe in homozygotes than in heterozygotes. The a-crystallin cellular DNA does not differ from normal (J:7668).

References

Original:	J:206638 Fraser FC, et al., 'Shrivelled', a hereditary degeneration of the lens in the house mouse. Genet Res. 1962;3(3):383-387
All:	16 reference(s)

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