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Allele : Npc1<tm1Tacf> NPC intracellular cholesterol transporter 1; targeted mutation 1, The Addi and Cassi Fund

Primary Identifier  MGI:6315233 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Npc1
Transmission  Germline Strain of Origin  B6.Cg-Thy1<a>
Is Recombinase  false Is Wild Type  false
molecularNote  Intron 9 of the mouse Npc1 gene was replaced with intron 9 of the human NPC1 gene containing the c.1554-1009G to A substitution. This incorporation generates a premature stop codon and a truncated protein. The results of western blot analysis indicate a faint band similar to the wild type protein in brain, and the absence of a band in liver.
  • mutations:
  • Nucleotide substitutions
  • synonyms:
  • imagine,
  • imagine
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

3 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele