Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Uchl1gad-2J
Name:	ubiquitin carboxy-terminal hydrolase L1; gracile axonal dystrophy 2 Jackson
MGI ID:	MGI:4458326
Gene:	Uchl1  Location: Chr5:66833464-66844577 bp, + strand  Genetic Position: Chr5, 35.95 cM
Alliance:	Uchl1gad-2J page

Strain of Origin:

(WC/ReJ KitlSl x B6.D2-KitlSl-d/J)F1-KitlSl/KitlSl-d/J

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: A single C-to-A point mutation was identified in exon 4, causing a change of alanine codon 96 to glutamic acid (p.A98E). (J:161692, J:222308) Inheritance:    Recessive

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

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:	29 strains or lines available

Original:	J:161692 Karst SY, et al., Gracile axonal dystrophy 2 Jackson; a neuromuscular mutation in the Uchl1 gene. MGI Direct Data Submission. 2010;
All:	2 reference(s)