Summary | Mutation origin | Mutation description | Expression | Phenotypes | Find Mice (IMSR) | References

Symbol:	Adatm1Vlr
Name:	adenosine deaminase; targeted mutation 1, Dinko Valerio
MGI ID:	MGI:2155977
Gene:	Ada  Location: Chr2:163568504-163592159 bp, - strand  Genetic Position: Chr2, 84.44 cM, cytoband H3
Alliance:	Adatm1Vlr page

Germline Transmission:	Earliest citation of germline transmission: J:26731
Parent Cell Line:	E14 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A hygromycin selection cassette replaced a genomic fragment containing exon 4, which encodes part of the active site of the enzyme. Western blot analysis of thymus, liver and brain extracts confirmed that the protein was not detectable in homozygous mice. Activity assays demonstrated that no functional protein was made from this allele in homozygous mice. (J:26731)

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

In Structures Affected by this Mutation:

4 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 0 strains available      Cell Lines: 0 lines available
Carrying any Ada Mutation:	30 strains or lines available

Original:	J:26731 Migchielsen AA, et al., Adenosine-deaminase-deficient mice die perinatally and exhibit liver-cell degeneration, atelectasis and small intestinal cell death. Nat Genet. 1995 Jul;10(3):279-87
All:	1 reference(s)