Allele/Variant

Spty2d1em1(IMPC)J

Species
Mus musculus
Symbol
Spty2d1em1(IMPC)J
Category
allele
Allele of gene
Spty2d1
Transgenic Constructs
None
Synonyms
None
Description
This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences GTATTGTGATGTGTGAGAGG and GATCTCGGAGAGCAGTGTAA, which resulted in a 2893 bp deletion beginning at Chromosome 7 position 46,997,270 bp and ending after 47,000,162 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000382653 and ENSMUSE00000339408 (exons 2 and 3) and 1245 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 20 and early truncation 83 amino acids later.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations