Nmnat1^imh
Chemically induced Allele Detail

Summary

• Symbol: Nmnat1^imh
• Name: nicotinamide nucleotide adenylyltransferase 1; induced mutation, human
• MGI ID: MGI:5903758
• Synonyms: V9M
• Gene: Nmnat1 Location: Chr4:149552029-149569659 bp, - strand Genetic Position: Chr4, 79.47 cM
• Alliance: Nmnat1^imh page

Mutation origin

• Strain of Origin: BALB/c

Mutation description

• Allele Type: Chemically induced (ENU) (Not Specified)
• Mutation: Single point mutation
• Mutation details: This ENU induced G to A point transition at c.25 is predicted to result in an amino acid change from valine to methionine at amino acid 9, a substitution that has been associated with Leber congenital amaurosis 9 in human. (J:234111)
• Inheritance: Recessive

Disease models

Expression

In Structures Affected by this Mutation:

5 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: 34 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)