Ptprcm2Btlr
Chemically induced Allele Detail
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Symbol: |
Ptprcm2Btlr |
Name: |
protein tyrosine phosphatase receptor type C; mutation 2, Bruce Beutler |
MGI ID: |
MGI:5609786 |
Synonyms: |
guotie |
Gene: |
Ptprc Location: Chr1:137990599-138103446 bp, - strand Genetic Position: Chr1, 60.73 cM
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Alliance: |
Ptprcm2Btlr 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 Applicable) |
Mutation: |
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Single point mutation
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Mutation details: The molecular lesion is a C-to-T transition at base pair 138,068,401 (GRCm38) on chromosome 1, or base pair 110,989 in the GenBank genomic region NC_000067. This corresponds to nucleotide 3,658 in the mRNA sequence NM_001111316, within exon 33 of 33 total exons; residue 3,339 in the mRNA sequence NM_011210, within exon 30 of 30 total exons; and residue 3,267 in the mRNA sequence NM_001268286, within exon 29 of 29 total exons. The mutation results in conversion of a codon for glutamine (Q) 1212 (isoform 1), Q1068 (isoform 2), or Q1047 (isoform 3) of the CD45 protein to a stop codon (Ter) (p.Q1212*/p.Q1068*/p.Q1047*).
(J:216796)
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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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Original: |
J:216796 Zeng M, et al., Mutagenetix entry for guotie. Updated January 09, 2015. MGI Direct Data Submission. 2015; |
All: |
2 reference(s) |
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