|
|
| Nomenclature |
|
Symbol:
|
Acp2nax
|
|
Name:
|
acid phosphatase 2, lysosomal;
naked and ataxia
|
|
MGI ID: |
MGI:3574793 |
|
Synonyms: |
nax |
|
Gene:
|
Acp2
Location:
Chr2:91202885-91214098 bp, + strand
Genetic Position: Chr2,
50.54 cM
|
|
Mutation
origin |
|
Germline Transmission:
|
Earliest citation of germline transmission:
J:95958
|
|
Parent Cell Line:
| R1 (ES Cell) |
|
Strain of Origin:
|
(129X1/SvJ x 129S1/Sv)F1-Kitl+
|
|
Mutation
description |
|
Allele
Type: | |
Spontaneous |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: This allele carries a A to G transition at position 740 in exon 7, causing a glycine to glutamic acid substitution at position 244 of the protein. (J:95958)
|
|
Inheritance: | |
Recessive |
|
Phenotypes
|
View phenotypes for all genotypes (concatenated display).
|
|
Disease models
|
|
| Find Mice (IMSR) |
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 Acp2 Mutation:
|
6 strains or lines available |
|
|
Notes |
This mutation arose in an R1 embryonic stem cell clone during the generation of an unrelated targeted mutation (J:95958).
|
| References |
|
Original: |
J:95958
Mannan AU et al.,
"Mutation in the gene encoding lysosomal acid phosphatase (Acp2) causes cerebellum and skin malformation in mouse."
Neurogenetics 2004 Dec;5(4):229-38
|
|
All: |
1 reference(s)
|
|
Analysis Tools
