Nmnat1^tvrm113
Chemically induced Allele Detail

Summary

• Symbol: Nmnat1^tvrm113
• Name: nicotinamide nucleotide adenylyltransferase 1; translational vision research model 113
• MGI ID: MGI:5902788
• Synonyms: D243G
• Gene: Nmnat1 Location: Chr4:149552029-149569659 bp, - strand Genetic Position: Chr4, 79.47 cM
• Alliance: Nmnat1^tvrm113 page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: This ENU-induced A to G point substitution at c.728 results in an aspartic acid to glycine substitution at amino acid 243 (D243G). (J:234111)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

3 anatomical structure(s)

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 Nmnat1 Mutation: 36 strains or lines available

References

• Original: J:234111 Greenwald SH, et al., Mouse Models of NMNAT1-Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease. Am J Pathol. 2016 Jul;186(7):1925-38
• All: 2 reference(s)