Allele/Variant

Slc9a5em1(IMPC)J

Species
Mus musculus
Symbol
Slc9a5em1(IMPC)J
Category
allele
Allele of gene
Slc9a5
Transgenic Constructs
None
Synonyms
None
Description
This allele was generated at The Jackson Laboratory by injecting Cas9 RNA and 4 guide sequences AGTAGGAGGGGGCCATACGG, TTCCTCCTAGTCCCCTGGGG, TTGAATGCAGGCCAAGTTGG and GCCTCCTCTGTCCCAAACGC, which resulted in a 205 bp deletion beginning at Chromosome 8 positive strand position 105,355,428 bp and ending after 105,355,632 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000355153 (exon 4) and 126 bp of flanking intronic sequence including the splice acceptor and donor. In addition there is a 2 bp insertion (AG) at the deletion site that will not alter the results of the exon deletion. This mutation is predicted to cause a change of amino acid sequence after residue 221 and early truncation 14 amino acids later.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations