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

Symbol:	Iduatm1Clk
Name:	iduronidase, alpha-L; targeted mutation 1, Lorne A Clarke
MGI ID:	MGI:2176236
Gene:	Idua  Location: Chr5:108808197-108832423 bp, + strand  Genetic Position: Chr5, 53.24 cM
Alliance:	Iduatm1Clk page

Germline Transmission:	Earliest citation of germline transmission: J:39522
Parent Cell Line:	R1 (ES Cell)
Strain of Origin:	(129X1/SvJ x 129S1/Sv)F1-Kitl+

Allele Type:    Targeted (Null/knockout) Mutation:    Insertion   Mutation details: A neomycin selection cassette was inserted into exon 6. RT-PCR analysis on RNA derived from liver and kidney of homozygous mice demonstrated that no detectable transcript was produced from this allele. Enzymatic activity assays on homogenates of liver, kidney, brain and tail clippings of homozygous mice confirmed that no functional protein was expressed from this allele. (J:39522)

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

In Structures Affected by this Mutation:

19 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Idua Mutation:	40 strains or lines available

Original:	J:39522 Clarke LA, et al., Murine mucopolysaccharidosis type I: targeted disruption of the murine alpha-L-iduronidase gene. Hum Mol Genet. 1997 Apr;6(4):503-11
All:	31 reference(s)