|
|
| Nomenclature |
|
Symbol:
|
Aspanur7
|
|
Name:
|
aspartoacylase;
neurological 7
|
|
MGI ID: |
MGI:2671733 |
|
Synonyms: |
neurological (nur) 07, nurm07Jus, small lethargic |
|
Gene:
|
Aspa
Location:
Chr11:73304992-73326807 bp, - strand
Genetic Position: Chr11,
45.28 cM, cytoband B4
|
|
Mutation
origin |
|
Strain of Origin:
|
C57BL/6J
|
|
Mutation
description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: Exon 4 contains a point mutation of C to T at position 577 that results in an amino acid substitution of a stop codon for glutamine at position 193 (Q193X). The absence of protein expression was confirmed by western blot on brain extracts. (J:143201)
|
|
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)
|
| References |
|
Original: |
J:85113
Kile BT et al.,
"Functional genetic analysis of mouse chromosome 11."
Nature 2003 Sep 4;425(6953):81-6
|
|
All: |
3 reference(s)
|
|
Analysis Tools
