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Allele : Heph<sla> hephaestin; sex-linked anemia

Primary Identifier  MGI:1857042 Allele Type  Radiation induced
Gene  Heph Inheritance Mode  Recessive
Strain of Origin  Not Specified Is Recombinase  false
Is Wild Type  false
molecularNote  The mutation in the sla mouse is thought to be a 3.5 kb deletion with breakpoints distal to exon 9 and proximal to exon 12. RT-PCR analysis of mRNA derived from intestine of homozygous mice confirmed that 582 nt of sequence was absent, and predicts an in-frame omission of 194 aa from the encoded protein. Northern blot analysis confirmed that a smaller message was made in homozygous mice. Immunohistochemistry of homozygotes detects HEPH staining only in the supreanuclear compartment of intestinal enterocgyes.
  • mutations:
  • Intragenic deletion
  • synonyms:
  • sla,
  • sla
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

4 Carried By

Trail: Allele

0 Driven By

29 Publication categories

Trail: Allele