Vps33a<bf> Spontaneous Allele Detail MGI Mouse (MGI:1856687)

Vps33a^bf
Spontaneous Allele Detail

Summary

Symbol:	Vps33a^bf
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:	Vps33a^bf page

Vps33a^bf/Vps33a^bf 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 details: This 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

View phenotypes and curated references for all genotypes (concatenated display).

Disease models

Expression

In Structures Affected by this Mutation:

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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