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Allele : Tubb3<tm1.1Ece> tubulin, beta 3 class III; targeted mutation 1.1, Elizabeth C Engle

Primary Identifier  MGI:4441058 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Tubb3
Transmission  Germline Strain of Origin  129S/SvEv
Is Recombinase  false Is Wild Type  false
molecularNote  Exon 4 was replaced with a loxP site and a modified exon 4 that contains nucleotide substitutions resulting in the amino acid substitution of cysteine for arginine at position 262 (R262C), mimicking a mutation found in some congenital fibrosis of the extraocular muscles type 3 (CFEOM3) patients. An frt and loxP flanked neo cassette downstream of the modified exon 4 was removed by flp mediated recombination leaving the modified exon 4 floxed. Reduced protein expression was confirmed by western blot analysis on extracts from homozygous and heterozygous mice.
  • mutations:
  • Intragenic deletion,
  • Insertion
  • synonyms:
  • TUBB3<R262C>,
  • TUBB3<R262C>
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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

5 Publication categories

Trail: Allele