Summary | Mutation origin | Mutation description | Phenotypes | Find Mice (IMSR) | References

Symbol:	Nle1l11Jus4
Name:	notchless homolog 1; lethal, Chr 11, Justice 4
MGI ID:	MGI:2671874
Synonyms:	l11Jus04
Gene:	Nle1  Location: Chr11:82791594-82799237 bp, - strand  Genetic Position: Chr11, 50.3 cM
Alliance:	Nle1l11Jus4 page

Strain of Origin:	C57BL/6J
Project Collection:	Mutagenesis for Dev. Defects

Allele Type:    Chemically induced (ENU) Mutation:    Nucleotide substitutions   Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. The molecular lesion is a c.487T>C transition mutation (p.S163P change in the encoded protein) in exon 5 for the l11Jus4 allele. This non-conservative amino acid substitution has a high probability to alter protein function, as serines easily form hydrogen bonds with polar substrates, while prolines are rarely found in active sites. 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, l11Jus4 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

View phenotypes and curated references for all genotypes (concatenated display).

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

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)