Exon 1, which encodes 96 residues that make up the cytosolic and transmembrane domains as well as a portion of the ectodomain, was deleted by in vitro cre mediated recombination. An aberrant trasncript resulting from a cryptic splice site within intron 1 was detected by RT-PCR. Sequence analysis identified two start codons in intron 1 that are in frame with exon 2. Translation of the aberrant transcript is expected to produce a protein in which the 96 endogenous amino acids are replaced with either 65 or 11 residues encoded by intronic sequence. The novel amino terminal is expected to lack the transmembrane and signal peptide characteristics of the endogenous protein. (J:71939)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
(129X1/SvJ x 129S1/Sv)F1-Kitl+
Targeted
Insertion, Intragenic deletion
--
1
3
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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