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Nle1rs13468707-C
Spontaneous Allele Detail
Summary
Symbol: Nle1rs13468707-C
Name: notchless homolog 1; rs13468707 SNP allele with the C variant
MGI ID: MGI:5476692
Synonyms: Nle1rs2820949-G
Gene: Nle1  Location: Chr11:82791594-82799237 bp, - strand  Genetic Position: Chr11, 50.3 cM
Alliance: Nle1rs13468707-C page
Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis is the minor variant of SNP rs13468707 (c.538G>A substitution leading to p.I180V) in exon 6 and codes for the mutant valine in place of the evolutionary conserved isoleucine. The C variant is found in the C57BL/6NJ, AKR/J, BALB/cJ, BALB/CBYJ, DBA/2J, FVB/NJ, NOD/LTJ ,NOD/ShiLtJ, NZO/HILtJ, and NZW/LacJ strains. This SNP is the equivalent of the well-documented human SNP rs2820949. (J:193532)
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
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 Nle1 Mutation:  27 strains or lines available
References
Original:  J:193532 Lossie AC, et al., ENU mutagenesis reveals that Notchless homolog 1 (Drosophila) affects Cdkn1a and several members of the Wnt pathway during murine pre-implantation development. BMC Genet. 2012;13:106
All:  1 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
11/19/2024
MGI 6.24
The Jackson Laboratory