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| Nomenclature |
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Symbol:
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Prkdcscid
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Name:
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protein kinase, DNA activated, catalytic polypeptide;
severe combined immunodeficiency
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MGI ID: |
MGI:1857113 |
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Synonyms: |
scid, SCID |
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Gene:
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Prkdc
Location:
Chr16:15637866-15842239 bp, + strand
Genetic Position: Chr16,
10.09 cM, cytoband B1
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Mutation
origin |
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Mutation
description |
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Allele
Type: | |
Spontaneous |
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Mutation: | |
Single point mutation |
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Mutation details: A T-to-A transversion point mutation at a position corresponding to codon 4095 created a premature stop codon. (J:35393, J:39329)
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Inheritance: | |
Recessive |
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Phenotypes
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View phenotypes for all genotypes (concatenated display).
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Disease models
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| Find Mice (IMSR) |
Mouse strains and cell lines available from the
International Mouse Strain Resource
(IMSR)
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| References |
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Original: |
J:6958
Bosma GC et al.,
"A severe combined immunodeficiency mutation in the mouse."
Nature 1983 Feb 10;301(5900):527-30
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All: |
509 reference(s)
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Analysis Tools
