Idua<tm1Clk> Targeted Allele Detail MGI Mouse (MGI:2176236)

Idua^tm1Clk
Targeted Allele Detail

Summary

Symbol:	Idua^tm1Clk
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:	Idua^tm1Clk page

Mutation
origin

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⁺

Mutation
description

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)

Phenotypes

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

Disease models

Expression

In Structures Affected by this Mutation:

Find Mice (IMSR)

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:	41 strains or lines available

References

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:	32 reference(s)

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