Summary | Mutation origin | Mutation description | Expression | Phenotypes | Disease models | Tumor data | Find Mice (IMSR) | References

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

Strain of Origin:

C.BKa-Ighb/Icr

Allele Type:    Spontaneous Mutation:    Single point mutation   Mutation details: A 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

View phenotypes and curated references for all genotypes (concatenated display).

In Mice Carrying this Mutation:	324 assay results 7 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	11 anatomical structure(s)

List all tumor models in MMHCdb carrying Prkdcscid

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 178 strains available      Cell Lines: 0 lines available
Carrying any Prkdc Mutation:	417 strains or lines available

Original:	J:6958 Bosma GC, et al., A severe combined immunodeficiency mutation in the mouse. Nature. 1983 Feb 10;301(5900):527-30
All:	992 reference(s)