Allele/Variant

Mamdc2em1(IMPC)J

Species
Mus musculus
Symbol
Mamdc2em1(IMPC)J
Category
allele
Allele of gene
Mamdc2
Transgenic Constructs
None
Synonyms
None
Description
This allele was generated at The Jackson Laboratory by electroporating Cas9 protein and 2 guide sequences CATGTGTTCTATGCTATATG and CTTGCATTGCATCATCCCAA, which resulted in a 446 bp deletion beginning at Chromosome 19 position 23,378,605 bp and ending after 23,379,050 bp (GRCm38/mm10). This mutation deletes ENSMUSE00000349008 (exon 3) and 174 bp of flanking intronic sequence including the splice acceptor and donor and is predicted to cause a change of amino acid sequence after residue 49 and early truncation 13 amino acids later. There is a single bp (T) insertion at the deletion site.
Additional Information
Literature

Transgenic Constructs

No data available

Genomic Variant Information

No data available

Variant Molecular Consequences

Phenotypes

Disease Associations