Nle1^l11Jus4
Chemically induced Allele Detail

Summary

• Symbol: Nle1^l11Jus4
• 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: Nle1^l11Jus4 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 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

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)