Lgi4<clp> Spontaneous Allele Detail MGI Mouse (MGI:1856594)

Lgi4^clp
Spontaneous Allele Detail

Summary

Symbol:	Lgi4^clp
Name:	leucine-rich repeat LGI family, member 4; claw paw
MGI ID:	MGI:1856594
Gene:	Lgi4 Location: Chr7:30758767-30770360 bp, + strand Genetic Position: Chr7, 19.29 cM
Alliance:	Lgi4^clp page

Mutation
origin

Strain of Origin:

B6.Cg-Lep^ob/J

Mutation
description

Allele Type:		Spontaneous (Null/knockout)
Mutation:		Insertion
		Mutation details: A CTCT repeat located six base pairs 5' to exon 4 is replaced with a 225-bp repetitive sequence which is 100% homologous to a repeat element located 797 bp upstream. This interferes with the third intron 3' splice site resulting in exon3 spliced to exon 5. The resulting protein, lacking exon 4, is not secreted as is the wild-type allele. (J:105260)
Inheritance:		Recessive

Phenotypes

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

Expression

In Structures Affected by this Mutation:

10 anatomical structure(s)

Tumor Data

List all tumor models in MMHCdb carrying Lgi4^clp

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 Lgi4 Mutation:	32 strains or lines available

Notes

This mutation arose at The Jackson Laboratory in 1977. The pathology of homozygous mutant mice differs from other myelin deficient mutants in that there is no obvious increase in Schwann cells and that the axons that persist in promyelin fibers are smaller (J:11392).

References

Original:	J:24743 Henry E, et al., Claw paw, a new mutation affecting peripheral nerves. Mouse News Lett. 1987;78:46
All:	9 reference(s)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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