Uchl1<gad> Spontaneous Allele Detail MGI Mouse (MGI:1856882)

Uchl1^gad
Spontaneous Allele Detail

Summary

Symbol:	Uchl1^gad
Name:	ubiquitin carboxy-terminal hydrolase L1; gracile axonal dystrophy
MGI ID:	MGI:1856882
Synonyms:	gad
Gene:	Uchl1 Location: Chr5:66833464-66844577 bp, + strand Genetic Position: Chr5, 35.95 cM
Alliance:	Uchl1^gad page

Mutation
origin

Strain of Origin:

Mutation
description

Allele Type:		Spontaneous
Mutation:		Intragenic deletion
		Mutation details: The mutation in the gad mouse is an in-frame deletion including exons 7 and 8. A truncated protein is encoded that is lacking a segment of 42 amino acids containing a catalytic residue. (J:57318, J:97670)
Inheritance:		Recessive

Phenotypes

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

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: 1 strain available Cell Lines: 0 lines available
Carrying any Uchl1 Mutation:	30 strains or lines available

References

Original:	J:30954 Yamazaki K, et al., Gracile axonal dystrophy (GAD), a new neurological mutant in the mouse. Proc Soc Exp Biol Med. 1988 Feb;187(2):209-15
All:	34 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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