Jak3m2Btlr
Chemically induced Allele Detail
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Symbol: |
Jak3m2Btlr |
Name: |
Janus kinase 3; mutation 2, Bruce Beutler |
MGI ID: |
MGI:5615719 |
Synonyms: |
citron |
Gene: |
Jak3 Location: Chr8:72129027-72143221 bp, + strand Genetic Position: Chr8, 34.43 cM
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Alliance: |
Jak3m2Btlr page
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Strain of Origin: |
C57BL/6J
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Project Collection: |
Beutler Mutagenetix
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Allele Type: |
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Chemically induced (ENU) (Not Specified) |
Mutation: |
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Single point mutation
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Mutation details: ENU mutagenesis induced a C to T transition at base pair 71,686,976 (v38) on chromosome 8, or base pair 10,594 in the GenBank genomic region NC_000074. The mutation is located within the donor splice site of intron 22, four nucleotides from the previous exon. The effect of the mutation at the cDNA and protein level is unknown. One possibility is that aberrant splicing would cause skipping of the 118 base pair exon 22 (out of 25 total exons; exon 22 encodes amino acids 990-1028) and a frame-shift that results in coding of two aberrant amino acids followed by a premature stop codon in exon 23.
(J:217796)
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Inheritance: |
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Recessive |
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View phenotypes and curated references for all genotypes (concatenated display).
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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
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Carrying any Jak3 Mutation: |
84 strains or lines available
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Original: |
J:217796 Zeng M, et al., Mutagenetix entry for citron. MGI Direct Data Submission. 2015; |
All: |
1 reference(s) |
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