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

Symbol: Snta1tm1Scf Name: syntrophin, acidic 1; targeted mutation 1, Stanley C Froehner MGI ID: MGI:2179769 Synonyms: alpha-Syn -/-, alphaSynKO Gene: Snta1  Location: Chr2:154218234-154250004 bp, - strand  Genetic Position: Chr2, 76.52 cM Alliance: Snta1tm1Scf page

Snta1tm1Scf/Snta1tm1Scf mice exhibit abnormal neuromuscular junctions Show the 2 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:76455
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin resistance cassette replaced a genomic fragment containing exon 1, which encodes the first 97 amino acids including part of the PH domain and part of the PDZ domain. Northern blot analysis on RNA derived from skeletal muscle of homozygous mice demonstrated that aberrant transcripts were expressed from this allele, but immunoprecipitation experiments confirmed that no detectable encoded protein was present in skeletal muscle of homozygous mice. (J:76455)

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

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 Snta1 Mutation:	34 strains or lines available

Original:	J:76455 Adams ME, et al., Absence of alpha-syntrophin leads to structurally aberrant neuromuscular synapses deficient in utrophin. J Cell Biol. 2000 Sep 18;150(6):1385-97
All:	37 reference(s)