Sptbn4^qv-4J
Spontaneous Allele Detail

Summary

• Symbol: Sptbn4^qv-4J
• Name: spectrin beta, non-erythrocytic 4; quivering 4 Jackson
• MGI ID: MGI:2150646
• Synonyms: Spnb4^qv-4J
• Gene: Sptbn4 Location: Chr7:27055808-27147111 bp, - strand Genetic Position: Chr7, 15.88 cM, cytoband A3
• Alliance: Sptbn4^qv-4J page

Mutation origin

• Strain of Origin: C57BL/6ByJ x DBA/2J

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation is a C-to-T transition point mutation at coding nucleotide 4234 (transcript XM_006540436), which introduces a premature stop codon at a position corresponding to glutamine 1412 in the encoded protein (p.Q1412*). (J:71549)
• Inheritance: Recessive

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:71549 Parkinson NJ, et al., Mutant beta-spectrin 4 causes auditory and motor neuropathies in quivering mice. Nat Genet. 2001 Sep;29(1):61-5
• All: 8 reference(s)