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

Symbol:	Sptbn4qv-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:	Sptbn4qv-lnd page

Strain of Origin:

C57BL/10SnJ

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

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

In Structures Affected by this Mutation:

2 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 Sptbn4 Mutation:	122 strains or lines available

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)