Cep192^em1Jlp

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Species

Mus musculus

Symbol

Cep192^em1Jlp

Category

allele

Allele of gene

Cep192

Transgenic Constructs

None

Synonyms

• Cep192^T1522M

Description

Threonine codon 1522 (ACG) in exon 24 was changed to methionine (ATG) (p.T1522M) using a crRNA (targeting GGAAAACGTGAAACAGCGCC) and an ssODN template with CRISPR/Cas9 technology. This mutation is the equivalent of the human p.T1547M mutant (SNPs rs143331552) found in some left ventricular noncompaction (LVNC) patients. The allele was created in zygotes that contained the Mib1^em2Jlp allele and created at the same time as the Tmx3^em1Jlp allele.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations