Hmgcs1^em1(IMPC)J

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Species

Mus musculus

Symbol

Hmgcs1^em1(IMPC)J

Category

allele

Allele of gene

Hmgcs1

Transgenic Constructs

None

Synonyms

None

Description

This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences TCTACACTGCAAAGAGAGCA and ACTTACTACCTCTCTAGAAC, which resulted in a 548 bp deletion beginning at Chromosome 13 position 119,702,388 bp and ending after 119,702,935 bp (GRCm38/mm10). This mutation deletes ENSMUSE00001063943 (exon 5) and 382 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 246 and early truncation 4 amino acids later.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations