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

Disease models

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)