Rab33b^em1Rmr
Endonuclease-mediated Allele Detail

Summary

• Symbol: Rab33b^em1Rmr
• Name: RAB33B, member RAS oncogene family; endonuclease-mediated mutation 1, Roy Morello
• MGI ID: MGI:7516354
• Synonyms: Rab33b^A136C
• Gene: Rab33b Location: Chr3:51391387-51403649 bp, + strand Genetic Position: Chr3, 22.49 cM, cytoband D
• Alliance: Rab33b^em1Rmr page

Mutation origin

• Strain of Origin: Not Specified

Mutation description

• Allele Type: Endonuclease-mediated (Humanized sequence)
• Mutation: Single point mutation
• Mutation details: CRISPR/Cas9 technology generated an A to C change at position 136 (c.136A>C) resulting in a lysine to glutamine substitution at amino acid 46 (p.K46Q). A few silent nucleotide changes upstream of the mutation were also introduced to facilitate genotyping. This is a disease-causing variant identified in a consanguineous family diagnosed with Smith McCort dysplasia. (J:338833)

Disease models

Expression

In Structures Affected by this Mutation:

5 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 Rab33b Mutation: 20 strains or lines available

References

• Original: J:338833 Dimori M, et al., A Rab33b missense mouse model for Smith-McCort dysplasia shows bone resorption defects and altered protein glycosylation. Front Genet. 2023;14:1204296
• All: 1 reference(s)