Neb^m1Anu
Chemically induced Allele Detail

Summary

• Symbol: Neb^m1Anu
• Name: nebulin; mutation 1, Australian National University
• MGI ID: MGI:6404213
• Synonyms: Neb^Y2303H
• Gene: Neb Location: Chr2:52026652-52228810 bp, - strand Genetic Position: Chr2, 29.98 cM
• Alliance: Neb^m1Anu page

Mutation origin

• Strain of Origin: C57BL/6J
• Project Collection: APF ENU Mutagenesis

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced an A T to C change at position 6907 resulting in a tyrosine to histidine substitution at position 2303 of the protein (Y2303H). (J:285564)

Disease models

Expression

In Structures Affected by this Mutation:

2 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 Neb Mutation: 401 strains or lines available

References

• Original: J:285564 Laitila JM, et al., Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb. Acta Neuropathol Commun. 2020 Feb 17;8(1):18
• All: 1 reference(s)