Impdh1^m1Btlr
Chemically induced Allele Detail

Summary

• Symbol: Impdh1^m1Btlr
• Name: inosine monophosphate dehydrogenase 1; mutation 1, Bruce Beutler
• MGI ID: MGI:6113645
• Synonyms: steve
• Gene: Impdh1 Location: Chr6:29200435-29216363 bp, - strand Genetic Position: Chr6, 12.36 cM, cytoband A3
• Alliance: Impdh1^m1Btlr page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: Beutler Mutagenetix

Mutation description

• Allele Type: Chemically induced (ENU) (Modified isoform(s))
• Mutation: Single point mutation
• Mutation details: ENU-induced C to T transition at base pair 29,204,632 (v38) on chromosome 6, or base pair 11,733 in the GenBank genomic region NC_000072. The mutation corresponds to residue 978 in the mRNA sequence NM_178666 within exon 8 of 14 total exons, and residue 1,144 in the mRNA sequences NM_001302933 and NM_001302934 in exon 8 of 14 total exons. The mutation results in substitution of glutamine (Q) 283 to a premature stop codon (Q283*) in isoform 3 of the protein and Q307* in isoform 1 and 2 of the protein. (J:254921)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

3 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 Impdh1 Mutation: 26 strains or lines available

References

• Original: J:254921 Ufret-Vincenty R, et al., Mutagenetix entry for steve. MGI Direct Data Submission. 2018
• All: 1 reference(s)