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Nle1l11Jus1
Chemically induced Allele Detail
Summary
Symbol: Nle1l11Jus1
Name: notchless homolog 1; lethal, Chr 11, Justice 1
MGI ID: MGI:2671871
Synonyms: l11Jus01
Gene: Nle1  Location: Chr11:82791594-82799237 bp, - strand  Genetic Position: Chr11, 50.3 cM
Alliance: Nle1l11Jus1 page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Mutagenesis for Dev. Defects
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Nucleotide substitutions
 
Mutation detailsThis phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. The molecular lesion is a c.1187T>G transversion mutation (p.I396S change in the encoded protein) in l11Jus1 heterozygotes in exon 10. This non-conservative substitution replaces an aliphatic, hydrophobic amino acid with a polar residue, which likely disrupts functionality. In addition, an endogenous C57BL/6J non-synonymous SNP rs13468707 (c.538A>G transition; p.I180V) is present in exon 6. This is the equivalent of well-documented human SNP rs2820949 and leads to a very conservative amino acid substitution. Thus, l11Jus1 homozygotes harbor two coding changes in this gene: an ENU-induced point mutation and an additional spontaneous missense mutation that is also present in the C57BL/6J parent strain. (J:193532)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Structures Affected by this Mutation: 1 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 Nle1 Mutation:  27 strains or lines available
References
Original:  J:85113 Kile BT, et al., Functional genetic analysis of mouse chromosome 11. Nature. 2003 Sep 4;425(6953):81-6
All:  3 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
05/14/2024
MGI 6.23
The Jackson Laboratory