Allele/Variant

Atp7aem1(IMPC)J

Species
Mus musculus
Symbol
Atp7aem1(IMPC)J
Category
allele
Allele of gene
Atp7a
Transgenic Constructs
None
Synonyms
None
Description
This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences CTAGGCATTGGAATGTGAAA and GTTTAGCAGGAAAGGCACTG, which resulted in a 951 bp deletion beginning at Chromosome X position 106,084,876 bp and ending after 106,085,826 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000378424 (exon 3) and 461 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 40 and early truncation 2 amino acids later.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

No data available

Phenotypes

Phenotype
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    Disease Associations

    Association
    Disease Qualifier
    Disease
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