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Allele : Cacna1f<tm1Sdie> calcium channel, voltage-dependent, alpha 1F subunit; targeted mutation 1, Susanne tom Dieck

Primary Identifier  MGI:3838716 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Cacna1f
Transmission  Germline Strain of Origin  B6.Cg-Thy1<a>
Is Recombinase  false Is Wild Type  false
molecularNote  A loxP site was inserted into intron 13, and an FRT site flanked neomycin resistance gene cassette and a second loxP site were inserted into intron 17. Exon 17 contains nucleotide substitutions that result in the amino acid substitution of isoleucine with threonine at position 756 (p.I756T) which corresponds to the same human mutation found in patients with an X-linked retinal disorder.
  • mutations:
  • Insertion,
  • Nucleotide substitutions
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1 Feature

Trail: Allele

Genome

0 Expresses

0 Mutation Involves

Phenotype

Mouse alleles --> Mammalian phenotypes (MP terms)

 

Other

1 Carried By

Trail: Allele

0 Driven By

5 Publication categories

Trail: Allele