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Prkdcscid
Spontaneous Allele Detail
Summary
Symbol: Prkdcscid
Name: protein kinase, DNA activated, catalytic polypeptide; severe combined immunodeficiency
MGI ID: MGI:1857113
Synonyms: scid, SCID
Gene: Prkdc  Location: Chr16:15455730-15660099 bp, + strand  Genetic Position: Chr16, 10.09 cM, cytoband B1
Alliance: Prkdcscid page
Mutation
origin
Strain of Origin:  C.BKa-Ighb/Icr
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsA T-to-A transversion point mutation at a position corresponding to codon 4046 (codon 4095 in transcript ENSMUST00000023352.8) created a premature stop codon (p.Y4046*). (J:35393, J:39329, J:287471)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Mice Carrying this Mutation: 320 assay results
6 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 11 anatomical structure(s)
Tumor Data
List all tumor models in MMHCdb carrying Prkdcscid
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 171 strains available      Cell Lines: 0 lines available
Carrying any Prkdc Mutation:  345 strains or lines available
References
Original:  J:6958 Bosma GC, et al., A severe combined immunodeficiency mutation in the mouse. Nature. 1983 Feb 10;301(5900):527-30
All:  858 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
02/13/2024
MGI 6.23
The Jackson Laboratory