Lias^nehe
Chemically induced Allele Detail

Summary

• Symbol: Lias^nehe
• Name: lipoic acid synthetase; nearly headless
• MGI ID: MGI:3578174
• Synonyms: 7A5, 7a5ex
• Gene: Lias Location: Chr5:65548840-65567766 bp, + strand Genetic Position: Chr5, 33.66 cM, cytoband C3.3
• Alliance: Lias^nehe page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced a T-to-C substitution at the splice donor site downstream of exon 6, changing it from G-GT to G-GC (GRCm39:chr5:65555233T>C). This causes anomalous splicing with out-of-frame exon 6 being skipped, which leads to a frameshift after codon 182 (UNIPROT:Q99M04) or 98 (UNIPROT:A0A0M3HEP3) and a premature stop codon after 17 codons in the shifted reading frame in exon 7 (GIQKSSWNASPQTSEVI*). The reduction in protein expression was confirmed by western blot analysis on E9.5 embryos. (J:163880)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

6 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Lias Mutation: 25 strains or lines available

References

• Original: J:98216 Garcia-Garcia MJ, et al., Inaugural Article: Analysis of mouse embryonic patterning and morphogenesis by forward genetics. Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):5913-9
• All: 2 reference(s)