Rabggta^gm
Spontaneous Allele Detail

Summary

• Symbol: Rabggta^gm
• Name: Rab geranylgeranyl transferase, a subunit; gunmetal
• MGI ID: MGI:1856886
• Synonyms: gm
• Gene: Rabggta Location: Chr14:55953321-55959720 bp, - strand Genetic Position: Chr14, 28.19 cM
• Alliance: Rabggta^gm page

C57BL/6J-Rabggta^gm/Rabggta^gm mice (Left) have a lighter coat color than coisogenic C57BL/6J-+/+ mice (Right).

Show the 1 phenotype image(s) involving this allele.

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

Allele Type: Spontaneous Mutation: Single point mutation Mutation details: Mice carrying the gunmetal mutation have a G-to-A substitution in the splice site acceptor site at the 3' end of intron 1. It eliminates the exon 2 splice acceptor by changing it from CAG to CAA, leading to mis-splicing. RT-PCR of extracts from gunmetal mice yielded two transcripts, a dominant 429 base pair transcript that lacks exon 1 and is predicted not to encode functional protein, and the 638 base pair, intron alpha retaining transcript found in wildtype mice. RABGGTA protein and enzymatic activity are found in gunmetal mice, but both are reduced by 70% relative to wildtype siblings. (J:52722) Inheritance: Recessive

A splice acceptor mutation in Rabggta causes abnormal splicing.

Disease models

Expression

In Structures Affected by this Mutation:

1 anatomical structure(s)

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 Rabggta Mutation: 24 strains or lines available

References

• Original: J:13419 Dickie MM, Gunmetal. Mouse News Lett. 1964;30:30
• All: 15 reference(s)