The molecular lesion is a T-to-C substitution in the Crkl gene, at position Chr16:17,452,790 (GRCm38). This nucleotide substitution resides 2 nucleotides downstream of exon 1. The mutant transcript is predicted to result in a loss of a putative splice donor and/or generation of additional exonic splice enhancers. Mutant embryos exhibit a loss of transcript expression compared to controls. Western blot analysis of protein extracted from whole E13.5 embryos confirmed the loss of protein in mutant mice. (J:251775)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
C57BL/6JAnu
Chemically induced
Single point
--
1
1
2

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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