Bckdhb^em1(IMPC)J

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Species

Mus musculus

Symbol

Bckdhb^em1(IMPC)J

Category

allele

Allele of gene

Bckdhb

Transgenic Constructs

None

Synonyms

• Bckdhb^-
• Bckdhb^em1J

Description

This allele from project Bckhb-8188J-M1369 was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences GCAAATCCCAGGTATCTCAA, CAATACGCATCTGAAAATGA, GCAGTTCGCATTTTGTAGAG and TGAGGGTCTCCAGCTTTCCG, which resulted in a 528 bp deletion beginning at Chromosome 9 positive strand position 83,988,526 bp, TTGAGATACCTGGGATTTGC, and ending after GCAGTTCGCATTTTGTAGAG at 83,989,053 bp (GRCm38/mm10). This mutation deletes exon 4 and 394 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 112 and early truncation 13 amino acids later. Western blot analysis confirmed the absence of the protein in the liver, heart and brain of homozygous mutant neonates.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations