Pcdh15<av-2J> Spontaneous Allele Detail MGI Mouse (MGI:1856396)

Pcdh15^av-2J
Spontaneous Allele Detail

Summary

Symbol:	Pcdh15^av-2J
Name:	protocadherin 15; Ames waltzer 2 Jackson
MGI ID:	MGI:1856396
Synonyms:	av^2J
Gene:	Pcdh15 Location: Chr10:72935174-74485569 bp, + strand Genetic Position: Chr10, 37.43 cM
Alliance:	Pcdh15^av-2J page

Mutation
origin

Strain of Origin:

linkage stock

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: A deletion of 81 bp in the coding sequence near the 5' end of the gene is predicted to eliminate 27 amino acids of the extracellular domain of the encoded protein. (J:66738)
Inheritance:		Recessive

Phenotypes

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

Expression

In Structures Affected by this Mutation:

1 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 Pcdh15 Mutation:	132 strains or lines available

Notes

Homozygotes for Pcdh15^av-2J are more severely afflicted than those for other J remutations. Pcdh15^av-2J homozygotes become disoriented and sink in swim tests (J:28688).

References

Original:	J:28688 Cook S, et al., Re-mutation to Ames waltzer. Mouse Genome. 1993;91:554
All:	8 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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