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Nmnat1tm1d(EUCOMM)Wtsi
Targeted Allele Detail
Nomenclature
Symbol: Nmnat1tm1d(EUCOMM)Wtsi
Name: nicotinamide nucleotide adenylyltransferase 1; targeted mutation 1d, Wellcome Trust Sanger Institute
MGI ID: MGI:6272869
Synonyms: Nmnat1-
Gene: Nmnat1  Location: Chr4:149467572-149485202 bp, - strand  Genetic Position: Chr4, 79.47 cM
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 detailsThe L1L2_gt1 cassette was inserted at position 149473897 of Chromosome 4 upstream of the critical exon 2 (Build GRCm38). 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 149472946. 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)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 2 anatomical structures
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:  14 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)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
05/19/2020
MGI 6.15
The Jackson Laboratory