Nmnat1^{tm1d(EUCOMM)Wtsi}
Targeted Allele Detail

Summary

• Symbol: Nmnat1^{tm1d(EUCOMM)Wtsi}
• Name: nicotinamide nucleotide adenylyltransferase 1; targeted mutation 1d, Wellcome Trust Sanger Institute
• MGI ID: MGI:6272869
• Synonyms: Nmnat1^-
• Gene: Nmnat1 Location: Chr4:149552029-149569659 bp, - strand Genetic Position: Chr4, 79.47 cM
• Alliance: Nmnat1^{tm1d(EUCOMM)Wtsi} page
• IMPC: Nmnat1 gene page

Mutation origin

• Germline Transmission: Earliest citation of germline transmission: J:267630
• Parent Cell Line: JM8.N4 (ES Cell)
• Strain of Origin: C57BL/6N
• Project Collection: EUCOMM

Mutation description

• Allele Type: Targeted (Null/knockout)
• Mutations: Insertion, Intragenic deletion
• Mutation details: The L1L2_gt1 cassette was inserted at position 149557403 of Chromosome 4 upstream of the critical exon 2 (Build GRCm39). The cassette is composed of an FRT flanked lacZ/neomycin sequence followed by a loxP site. An additional loxP site is inserted downstream of the targeted exon(s) at position 149558354. The critical exon 2 is thus flanked by loxP sites. A "conditional ready" (floxed) allele was created by flp recombinase expression in mice carrying this allele to remove the lacZ sequence and neo selection cassette, leaving loxP sites flanking the critical exon(s). Subsequent cre-mediated recombination deleted exon 2 and resulted in a knockout mouse. (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)