Uchl1^gad-2J
Spontaneous Allele Detail

Summary

• Symbol: Uchl1^gad-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: Uchl1^gad-2J page

Mutation origin

• Strain of Origin: (WC/ReJ Kitl^Sl x B6.D2-Kitl^Sl-d/J)F1-Kitl^Sl/Kitl^Sl-d/J

Mutation description

• 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

Expression

In Structures Affected by this Mutation:

3 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 Uchl1 Mutation: 30 strains or lines available

References

• 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)