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Napahyh
Spontaneous Allele Detail
Nomenclature
Symbol: Napahyh
Name: N-ethylmaleimide sensitive fusion protein attachment protein alpha; hydrocephaly with hop gait
MGI ID: MGI:1856610
Synonyms: hyh
Gene: Napa  Location: Chr7:15832383-15851900 bp, + strand  Genetic Position: Chr7, 8.74 cM
Mutation
origin
Strain of Origin:  C57BL/10J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThe G-to-A transition identified in exon 4 results in the substitution of the conserved methionine at amino acid residue 105 with an isoleucine (p.M105I). Transcript expression levels were normal as determined by Northern blot analysis. Presence of the mutation was confirmed by RT-PCR sequence analysis of mRNA from brain tissue. Western blot analysis indicated that the mutant protein is about 40% less abundant in homozygous mutant mice than is the normal protein in wild-type mice. (J:88183, J:156559)
Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 5 assay results
In Structures Affected by this Mutation: 15 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 Napa Mutation:  10 strains or lines available
References
Original:  J:14015 Lane PW, Hydrocephaly with hop gait (hyh). Mouse News Lett. 1985;73:18
All:  19 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
11/23/2021
MGI 6.17
The Jackson Laboratory