Nptn^pitch
Chemically induced Allele Detail

Summary

• Symbol: Nptn^pitch
• Name: neuroplastin; pitch
• MGI ID: MGI:5911043
• Gene: Nptn Location: Chr9:58489504-58560162 bp, + strand Genetic Position: Chr9, 31.79 cM
• Alliance: Nptn^pitch page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Null/knockout)
• Mutation: Single point mutation
• Mutation details: ENU mutagenesis induced in a T to A transversion at nucleotide 943 in exon 6 resulting in a cysteine to serine substitution at amino acid 315 in the Np65 isoform or amino acid 199 in the Np55 isoform. The mutated amino acid is located in the common extracellular Ig-like module 3 present in both the Np65 and Np55 isoforms. In vitro analysis indicates the mutant protein fails to localize to the plasma membrane and is instead retained in the endoplasmic reticulum. (J:228717)

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 Nptn Mutation: 36 strains or lines available

References

• Original: J:228717 Carrott L, et al., Absence of Neuroplastin-65 Affects Synaptogenesis in Mouse Inner Hair Cells and Causes Profound Hearing Loss. J Neurosci. 2016 Jan 6;36(1):222-34
• All: 1 reference(s)