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Allele : Abca3<tm1.1Smgt> ATP-binding cassette, sub-family A member 3; targeted mutation 1.1, Surafel Mulugeta

Primary Identifier  MGI:6306273 Allele Type  Targeted
Attribute String  Humanized sequence Gene  Abca3
Transmission  Germline Strain of Origin  C57BL/6
Is Recombinase  false Is Wild Type  false
molecularNote  Glutamic acid codon 292 (GAG) in exon 9 was changed to valine (p.E292V). Flp-mediated recombination removed the FRT site flanked neomycin resistance gene cassette inserted into intron 8. The mutation represents the same human mutation associated with neonatal respiratory distress syndrom, childhood interstitial lung disease and diffuse parenchymal lung disease (DPLD) in adults.
  • mutations:
  • Insertion,
  • Single point mutation
  • synonyms:
  • Abca3<E292V>,
  • Abca3<E292V>
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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