|
|
| Nomenclature |
|
Symbol:
|
Zfp423nur12
|
|
Name:
|
zinc finger protein 423;
neurological 12
|
|
MGI ID: |
MGI:2671784 |
|
Synonyms: |
ataxia1, nurm12Jus |
|
Gene:
|
Zfp423
Location:
Chr8:87661810-87959595 bp, - strand
Genetic Position: Chr8,
42.29 cM, cytoband C4
|
|
Ataxia and malformation in Zfp423nur12/Zfp423nur12 mice
Show the 1 image(s) involving this allele.
|
 |
|
Mutation origin |
|
Strain of Origin:
|
C57BL/6J
|
|
Mutation description |
|
Allele
Type: | |
Chemically induced (ENU) |
|
Mutation: | |
Single point mutation |
| |
|
Mutation details: This phenotypic mutant was identified in an ENU mutagenesis screen at the Baylor College of Medicine. A C-to-T transition mutation in the fourth exon results in the introduction of a premature stop codon. Western blot analysis showed that no detectable protein was expressed from this allele. (J:114758)
|
|
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)
|
|
Notes |
Phenotypic Similarity to Human Syndrome: Cerebellar vermis hypoplasia (J:114758).
|
| 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)
|
|