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The following elements were inserted immediately downstream of exon 1: coding cDNA sequence for exons 2-5 where exon 5 has a T-to-A point mutation changing leucine codon 184 to glutamine (p.L184Q), triple stop codons, bovine growth hormone gene poly(A) signal sequences and a loxP site flanked neomycin resistance gene cassette. The neo cassette was removed through subsequent Cre-mediated recombination. The mutation mimics the p.L188Q human mutation associated with lung disease. (J:313007)
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
