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Kitlm1Btlr
Chemically induced Allele Detail
Summary
Symbol: Kitlm1Btlr
Name: kit ligand; mutation 1, Bruce Beutler
MGI ID: MGI:6199628
Synonyms: mooyah
Gene: Kitl  Location: Chr10:99851492-99936278 bp, + strand  Genetic Position: Chr10, 51.4 cM
Alliance: Kitlm1Btlr page
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Beutler Mutagenetix
Mutation
description
Allele Type:    Chemically induced (ENU) (Not Specified)
Mutation:    Single point mutation
 
Mutation detailsENU-induced T to C transition at base pair 100,088,222 (v38) on chromosome 10, or base pair 72,588 in the GenBank genomic region NC_000076 in the splice donor site of intron 8. The effect of the mutation at the cDNA and protein levels have not examined, but the mutation is predicted to result in skipping of the 68-nucleotide exon 8 (out of 10 total exons), resulting in a frame-shifted protein product beginning after amino acid 238 of the protein, and terminating after the inclusion of 27 aberrant amino acids. (J:265121)
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: 0 strains available      Cell Lines: 0 lines available
Carrying any Kitl Mutation:  94 strains or lines available
References
Original:  J:265121 Reyna C, et al., Mutagenetix entry for mooyah. MGI Direct Data Submission. 2018;
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
11/12/2024
MGI 6.24
The Jackson Laboratory