Rab33b^em1Rmr

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Species

Mus musculus

Symbol

Rab33b^em1Rmr

Category

allele

Allele of gene

Rab33b

Transgenic Constructs

None

Synonyms

• Rab33b^A136C

Description

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.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations