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

Symbol:	Impdh1m1Btlr
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:	Impdh1m1Btlr page

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

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

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

In Structures Affected by this Mutation:

3 anatomical structure(s)

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:	23 strains or lines available

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