A loxP site was inserted into intron 14 (with reference to ENSMUST00000023477) and human GH gene poly(A) signal sequences and a second loxP site were inserted downstream of exon 18. Genomic sequence containing the 3 end of intron 14 and the entirety of exons 15-18 and intervening introns, where serine codon 600 (TCT) in exon 16 (in ENSMUST00000023477) was changed to alanine (GCT) (p.S600A), was inserted downstream of the second loxP site. Subsequent Cre-mediated recombination removed the wild-type exons and inserted poly(A) signal sequences. The mutation blocks phosphorylation of the affected residue in the encoded peptide. (J:342717)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6NTac
Targeted
Insertion, Single point
--
1
3
1

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

References Literature

Title
PMID
Journal
Year
IF
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