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Aspanur7
Chemically induced Allele Detail
Nomenclature
Symbol: Aspanur7
Name: aspartoacylase; neurological 7
MGI ID: MGI:2671733
Synonyms: neurological (nur) 07, nurm07Jus, small lethargic
Gene: Aspa  Location: Chr11:73304987-73326876 bp, - strand  Genetic Position: Chr11, 45.28 cM, cytoband B4
Mutation
origin
Strain of Origin:  C57BL/6J
Project Collection: Mutagenesis for Dev. Defects
Mutation
description
Allele Type:    Chemically induced (ENU)
Mutation:    Single point mutation
 
Mutation detailsExon 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
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View phenotypes and curated references for all genotypes (concatenated display).
Disease models
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Expression
In Structures Affected by this Mutation: 4 anatomical structures
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 Aspa Mutation:  11 strains or lines available
References
Original:  J:85113 Kile BT, et al., Functional genetic analysis of mouse chromosome 11. Nature. 2003 Sep 4;425(6953):81-6
All:  8 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
03/30/2021
MGI 6.16
The Jackson Laboratory