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. This allele expresses the wild-type peptide and only after conditional Cre-mediated excision of the wild-type exons will it express the modified peptide. 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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