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Allele : Slc39a8<tm1.1Xav> solute carrier family 39 (metal ion transporter), member 8; targeted mutation 1.1, Ramnik Xavier

Primary Identifier  MGI:7411298 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Slc39a8
Transmission  Germline Strain of Origin  C57BL/6J
Is Recombinase  false Is Wild Type  false
molecularNote  An alanine to threonine substitution at amino acid 393 (p.A393T) was introduced in exon 8 along with an FRT-flanked neomycin resistance cassette 290 bp downstream of exon 8. The neomycin resistance cassette was removed via flp-mediated recombination. The A393T corresponds to human A391T missense variant that is associated with a variety of traits ranging from Parkinson’s disease and neuropsychiatric disease to cardiovascular and metabolic diseases and Crohn’s disease.
  • mutations:
  • Single point mutation
  • synonyms:
  • Slc39a8 A391T,
  • Slc39a8 A391T
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

0 Carried By

0 Driven By

4 Publication categories

Trail: Allele