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Allele : Enpp1<ttw-Ham> ectonucleotide pyrophosphatase/phosphodiesterase 1; tiptoe walking Hamamatsu University School of Medicine

Primary Identifier  MGI:6402836 Allele Type  Spontaneous
Attribute String  Null/knockout Gene  Enpp1
Inheritance Mode  Recessive Strain of Origin  Jcl:ICR
Is Recombinase  false Is Wild Type  false
molecularNote  This spontaneous G>T mutation in intron 2 at the exon 2-intron 2 boundary, which changes splice donor site G-GT to a non-functional G-TT sequence (c.259+1G>T), was found in Jcl:iCR closed colony mice. The mutation results in an alternative splicing event skipping exon 2, which leads to a frameshift and premature stop codon.
  • mutations:
  • Single point mutation
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1 Feature

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

0 Driven By

3 Publication categories