Nmnat1^tm1Ruch
Targeted Allele Detail

Summary

• Symbol: Nmnat1^tm1Ruch
• Name: nicotinamide nucleotide adenylyltransferase 1; targeted mutation 1, Rui Chen
• MGI ID: MGI:6272867
• Synonyms: Nmnat1^E257K
• Gene: Nmnat1 Location: Chr4:149552029-149569659 bp, - strand Genetic Position: Chr4, 79.47 cM
• Alliance: Nmnat1^tm1Ruch page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:267630
• Parent Cell Line: AB2.2 (ES Cell)
• Strain of Origin: 129S7/SvEvBrd-Hprt1^b-m2

Mutation description

• Allele Type: Targeted (Not Specified)
• Mutations: Insertion, Single point mutation
• Mutation details: A point mutation, G to A at position 769, in exon 4 resulting in a glutamate to lysine substitution at amino acid 257 (E257K) and a FRT-flanked neomycin cassette downstream of exon 4 were introduced via homologous recombination. (J:267630)

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 Nmnat1 Mutation: 36 strains or lines available

References

• Original: J:267630 Eblimit A, et al., NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 Aug;173:32-43
• All: 2 reference(s)