Rabl3^xm
Chemically induced Allele Detail

Summary

• Symbol: Rabl3^xm
• Name: RAB, member RAS oncogene family-like 3; xiamen
• MGI ID: MGI:6441472
• Gene: Rabl3 Location: Chr16:37360247-37392747 bp, + strand Genetic Position: Chr16, 26.39 cM
• Alliance: Rabl3^xm page

Mutation origin

• Strain of Origin: C57BL/6J

Mutation description

• Allele Type: Chemically induced (ENU) (Hypomorph)
• Mutation: Single point mutation
• Mutation details: An A-to-G mutation 7 nucleotides upstream of the 3' end of exon 2 changes splicing: a cryptic G-GT splice donor site 12 bp upstream of the regular A-GT donor site is used, causing the loss of 12 bp (GTGGaTATCAGA, with the mutated nucleotide in lower case) in mature transcripts and the corresponding 4 amino-acids (43-46: VDIR) in the encoded peptide. (J:287198)

Expression

In Structures Affected by this Mutation:

2 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 0 strains available Cell Lines: 0 lines available
• Carrying any Rabl3 Mutation: 18 strains or lines available

References

• Original: J:287198 Zhong X, et al., Genetic and structural studies of RABL3 reveal an essential role in lymphoid development and function. Proc Natl Acad Sci U S A. 2020 Apr 14;117(15):8563-8572
• All: 1 reference(s)