Sptbn4^qv-lnd
Spontaneous Allele Detail

Summary

• Symbol: Sptbn4^qv-lnd
• Name: spectrin beta, non-erythrocytic 4; lumbosacral neuroaxonal dystrophy
• MGI ID: MGI:1856939
• Synonyms: dyn, lnd
• Gene: Sptbn4 Location: Chr7:27055808-27147111 bp, - strand Genetic Position: Chr7, 15.88 cM, cytoband A3
• Alliance: Sptbn4^qv-lnd page

Mutation origin

• Strain of Origin: C57BL/10SnJ

Mutation description

• Allele Type: Spontaneous
• Mutation: Intragenic deletion
• Mutation details: The mutation is a single base pair deletion of residue C1583 (transcript XM_006540436) causing a frameshift at arginine 528. (J:71549)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

2 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 Sptbn4 Mutation: 122 strains or lines available

References

• Original: J:11718 Bronson RT, et al., Genetic and age related models of neurodegeneration in mice: dystrophic axons. J Neurogenet. 1992 May;8(2):71-83
• All: 2 reference(s)