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

Mip^Cat-Fr
Spontaneous Allele Detail

Nomenclature

Symbol:	Mip^Cat-Fr
Name:	major intrinsic protein of eye lens fiber; dominant cataract Fraser
MGI ID:	MGI:1857104
Synonyms:	Cat⁶⁰, shrivelled, Svl
Gene:	Mip Location: Chr10:127662894-127668868 bp, + strand Genetic Position: Chr10, 74.0 cM, cytoband D1

Mutation
origin

Strain of Origin:

A/J

Mutation
description

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

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:	17 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	ht2
vision/eye		√
abnormal lens fiber morphology		√
cataracts		√
small lens		√

		hm1	ht2
Disease Models		√	√
Cataract, Autosomal Dominant		√	√
Major Intrinsic Protein of Lens Fiber; MIP		√	√

Phenotypic
data by
genotype

Phenotypic Data by Genotype

(show or hide all phenotypic details)

Genotype

Allelic Composition

Genetic Background

hm1 Disease Model

Mip^Cat-Fr/Mip^Cat-Fr

involves: A/J

Disease
models

Mouse Models of Human Disease	Note	Genotype			Ref(s)
Mouse Models of Human Disease	Note		Allelic Composition	Genetic Background	Ref(s)
Models with phenotypic similarity to human diseases associated with human MIP.
Cataract, Autosomal Dominant OMIM ID: 604219		hm1	Mip^Cat-Fr/Mip^Cat-Fr	involves: A/J	J:31574
Cataract, Autosomal Dominant OMIM ID: 604219		ht	Mip^Cat-Fr/Mip⁺	involves: A/J	J:31574
Major Intrinsic Protein of Lens Fiber; MIP OMIM ID: 154050		hm1	Mip^Cat-Fr/Mip^Cat-Fr	involves: A/J	J:31574
Major Intrinsic Protein of Lens Fiber; MIP OMIM ID: 154050		ht	Mip^Cat-Fr/Mip⁺	involves: A/J	J:31574

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:5045 Verrusio AC et al., "Identity of mutant genes 'Shrivelled' and cataracta congenita subcapsularis in the mouse." Genet Res 1966 Dec;8(3):377-8
All:	11 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
Citing These Resources Funding Information Warranty Disclaimer & Copyright Notice Send questions and comments to User Support.	last database update 11/20/2009 MGI_4.31 Web browser compatibility