Nptn^Y219X
Chemically induced Allele Detail

Summary

• Symbol: Nptn^Y219X
• Name: neuroplastin; Tyr219stop
• MGI ID: MGI:5911041
• Gene: Nptn Location: Chr9:58489504-58560162 bp, + strand Genetic Position: Chr9, 31.79 cM
• Alliance: Nptn^Y219X page

Mutation origin

• Strain of Origin: (C3H/HeH x BALB/c)F1

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 657 in exon 4 resulting in a nonsense mutation of tyrosine 219 (in Np65) to a stop signal. If translated both Np65 and Np55 isoforms would be truncated lacking part of Ig2 and all of the Ig3 and transmembrane domains. (J:75104, J:228717)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Nptn Mutation: 39 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: 2 reference(s)