Gnas^Oedsml
Chemically induced Allele Detail

Summary

• Symbol: Gnas^Oedsml
• Name: GNAS complex locus; oedematous-small
• MGI ID: MGI:2183318
• Synonyms: Gnas^Oedsml-mat, Gnas^Oedsml-pat
• Gene: Gnas Location: Chr2:174126113-174188537 bp, + strand Genetic Position: Chr2, 97.89 cM, cytoband E1-H3
• Alliance: Gnas^Oedsml page

Mutation origin

• Strain of Origin: (C3H/HeH x 101/H)F1

Mutation description

• Allele Type: Chemically induced (ENU)
• Mutation: Single point mutation
• Mutation details: Identified in an ENU-mutagenesis experiment. The mutation is identified as a transversion AT-TA point mutation in exon 6 in codon 159, resulting in an amino acid substitution: valine to glutamate at residue 159 (V159E). (J:79493)

Expression

In Structures Affected by this Mutation:

5 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 Gnas Mutation: 53 strains or lines available

Notes

This locus is subject to imprinting effects. The phenotype of oedema or small is dependent on maternal or paternal inheritance of the mutant allele.

References

• Original: J:65007 Cattanach BM, et al., Two imprinted gene mutations: three phenotypes. Hum Mol Genet. 2000 Sep 22;9(15):2263-73
• All: 7 reference(s)