Hps1^ep-6J

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Species

Mus musculus

Symbol

Hps1^ep-6J

Category

allele

Allele of gene

Hps1

Transgenic Constructs

None

Synonyms

• ep^6J

Description

This allele was identified by a noncomplementation test with Hps1^ep. Direct DNA sequence analysis showed a complex 23 bp deletion/3 bp insertion in exon 17 of the Hps1 gene that introduced a translation terminator. In exon 19 there was a 7 bp duplication flanking an intracisternal A element with the long terminal repeats in the antisense transcriptional orientation.

Additional Information

Literature

Transgenic Constructs

Genomic Variant Information

Variant Molecular Consequences

Phenotypes

Disease Associations