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Vps33abf
Spontaneous Allele Detail
Summary
Symbol: Vps33abf
Name: VPS33A CORVET/HOPS core subunit; buff
MGI ID: MGI:1856687
Synonyms: bf
Gene: Vps33a  Location: Chr5:123666820-123711104 bp, - strand  Genetic Position: Chr5, 63.03 cM
Alliance: Vps33abf page
Vps33abf/Vps33abf mice exibit coat color hypopigmentation and reduced size and number of melanosomes in the eyes

Show the 2 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C57BL/6J
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation detailsThis allele comprises a T-to-G transversion that causes a missense substitution of aspartic acid to glutamic acid at codon 251 (p.D251E). (J:81830)
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: 6 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Vps33a Mutation:  38 strains or lines available
References
Original:  J:13418 Dickie MM, Buff. Mouse News Lett. 1964;30:30
All:  16 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
10/01/2024
MGI 6.24
The Jackson Laboratory