Arsa^tm1Gie
Targeted Allele Detail

Summary

• Symbol: Arsa^tm1Gie
• 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: Arsa^tm1Gie page

Histochemistry and ultrastructure of sulfatide storage in the brain of Arsa^tm1Gie/Arsa^tm1Gie mice

Show the 2 phenotype image(s) involving this allele.

Mutation origin

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

Mutation description

• 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)

Disease models

Expression

In Structures Affected by this Mutation:

11 anatomical structure(s)

Find Mice (IMSR)

• 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

References

• 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: 27 reference(s)