Allele/Variant

Phkbem1(IMPC)J

Species
Mus musculus
Symbol
Phkbem1(IMPC)J
Category
allele
Allele of gene
Phkb
Transgenic Constructs
None
Synonyms
None
Description
This allele from project Phkb-8543J-8397M was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences TTAATGCTCTAAGTAGTTGG, TGTGCAGTATGGATTTGCAG, GTTCTCCTGCTAACTCCACG and CTCGTCCACGTGGAGTTAGC, which resulted in a 329 bp deletion beginning at Chromosome 8 positive strand position 85,877,961 bp, ATTTGCAGTGGGCTAGAGTT, and ending after TGCTAACTCCACGTGGACGA at 85,878,289 bp (GRCm38/mm10). This mutation deletes exon 4 and 190 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 47 and early truncation 17 amino acids later.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations