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

Symbol: Arsatm1Gie Name: arylsulfatase A; targeted mutation 1, Volkmar Gieselmann MGI ID: MGI:2180363 Synonyms: As2-, ASA(-) Gene: Arsa  Location: Chr15:89356679-89361627 bp, - strand  Genetic Position: Chr15, 44.94 cM, cytoband E Alliance: Arsatm1Gie page

Histochemistry and ultrastructure of sulfatide storage in the brain of Arsatm1Gie/Arsatm1Gie mice Show the 2 phenotype image(s) involving this allele.

Germline Transmission:	Earliest citation of germline transmission: J:37978
Parent Cell Line:	E14.1 (ES Cell)
Strain of Origin:	129P2/OlaHsd

Allele Type:    Targeted (Null/knockout) Mutations:    Insertion, Intragenic deletion   Mutation details: A neomycin selection cassette was inserted into exon 4, disrupting the open reading frame. Complete absence of enzyme activity was confirmed by Northern blot analysis and by the sulfatide loading assay. (J:37978)

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

In Structures Affected by this Mutation:

11 anatomical structure(s)

Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:	Mouse Strains: 1 strain available      Cell Lines: 0 lines available
Carrying any Arsa Mutation:	21 strains or lines available

Original:	J:37978 Hess B, et al., Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy. Proc Natl Acad Sci U S A. 1996 Dec 10;93(25):14821-6
All:	26 reference(s)