Prkdc^scid
Spontaneous Allele Detail

Summary

• Symbol: Prkdc^scid
• 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: Prkdc^scid page

Mutation origin

• Strain of Origin: C.BKa-Igh^b/Icr

Mutation description

• 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

Disease models

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 Prkdc^scid

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: 408 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: 866 reference(s)