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| Nomenclature |
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Symbol:
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KitlSl-20J
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Name:
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kit ligand;
steel 20 Jackson
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MGI ID: |
MGI:2682007 |
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Gene:
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Kitl
Location:
Chr10:99478264-99563047 bp, + strand
Genetic Position: Chr10,
57.0 cM
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Mutation
origin |
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Strain of Origin:
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C57BL/6J
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Mutation
description |
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Allele
Type: |
Spontaneous |
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Mutation: |
Insertion |
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Long-range PCR demonstrated that this mutation is an in-frame tandem duplication of exon 3 which also involves duplication of introns 3 and 2. At the junction between intron 3 and intron 2 there is an inverted 141 bp duplication of a sequence found later in intron 2. The duplication of exon 3 results in a loss of function in the expressed protein due either to defective binding to its receptor or failure to activate the receptor once bound. (J:86436) |
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Inheritance: |
Semidominant |
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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Phenotype
summary
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Phenotype Summary by Mammalian Phenotype terms
(show or
hide all annotated terms)
Genotypes are listed in the next section.
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Key:
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| hm |
homozygous |
ht |
heterozygous |
| cn |
conditional genotype |
cx |
complex: > 1 genome feature |
| tg |
involves transgenes |
ot |
other: hemizygous, indeterminate,... |
| N |
normal phenotype |
 |
expected model not found |
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Phenotypic
data by
genotype
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Phenotypic Data by Genotype
(show or
hide all phenotypic details)
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Notes |
This spontaneous mutation arose in a C57BL/6J breeding colony at The Jackson Laboratory.
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| References |
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Original: |
J:86436
Chandra S et al.,
"A rare complex DNA rearrangement in the murine Steel gene results in exon duplication and a lethal phenotype."
Blood 2003 Nov 15;102(10):3548-55
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All: |
1 reference(s)
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