Aberrant recombination of a targeting vector containing a human HP1/PDGFRB cDNA resulted in an allele from which neither mouse nor human transcript or protein were produced. Sequence analysis revealed a 498 bp deletion, which predicts a frameshift mutation in the protein product as murine exon 1 is fused to the human HP1/PDGFRB cDNA out of frame. (J:90400)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
129X1/SvJ
Targeted
Insertion, Intragenic deletion
--
1
--
5

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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