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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. (J:274491)
Basic Information
Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Phenotypes
Legend：
hm: homozygous
ht: heterozygous
cn: conditional genotype
cx: complex: > 1 genome feature
tg: involves transgenes
ot: other: hemizygous, indeterminate,...
(F): Female
(M): Male
phenotype observed
N: normal phenotype
(#): related diseases count
Phenotypes：
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| Phenotypes |
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References Literature
Title
PMID
Journal
Year
IF
