Allele/Variant

Vps35lem2Shis

Species
Mus musculus
Symbol
Vps35lem2Shis
Category
allele
Allele of gene
Vps35l
Transgenic Constructs
None
Synonyms
None
Description
Exon 10 was targeted with an sgRNA (targeting CCATCCGGGAACTCATTCCAAGA) using CRISPR/Cas9 technology, resulting in a 2 bp deletion of GG and a 7 bp insertion of ATTCCAA. Exon 10 contains mutations in human patients presenting with a phenotype similar to, but distinct from, cranio-cerebello-cardiac/Ritscher-Schinzel syndrome (3C/RSS).
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
Annotation details
Source
References
embryonic lethality between somite formation and embryo turning, complete penetrance
MGI
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Disease Associations

No data available