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Allele : Itm2b<tm3.1Ldad> integral membrane protein 2B; targeted mutation 3.1, Luciano D'Adamio

Primary Identifier  MGI:4867871 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Itm2b
Transmission  Germline Strain of Origin  129
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 6 was replaced with one in which nucleotide substitutions result in the introduction of an XbaI site at nucleotide 799 and the amino acid substitution of arginine for a stop codon at position 267 (X267R) recapitulating the familial British dementia (FBD) mutation and alanine for threonine at the 12th codon of exon 6 to humanize the sequence. A neo cassette inserted upstream of the modified exon 6 was removed by cre-mediated recombination.
  • mutations:
  • Nucleotide substitutions,
  • Insertion
  • synonyms:
  • FBD<KI>,
  • FBD<KI>,
  • Bri2<tABri>,
  • Bri2<tABri>
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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