This mutation was caused by the insertion of 6 to 8 copies of a transgenic construct containing the chloramphenicol acetyltransferase (CAT) gene adjoined to a rat H+/K+ ATPase promoter. Approximately 7 kb of genomic DNA was deleted at the insertion site. This insertion/deletion was shown to be located in intron 3 of the Rspo2 gene. No exons of the gene were deleted. Analysis of the transcript by RT-PCR, northern and in situ hybridization analysis showed that a smaller transcript is expressed from this allele that results from the splicing of exon 3 to a cryptic splice site in the inserted transgene. RT-PCR analysis indicates that a very low level of full-length transcript is expressed; however, no full length transcript is detectable by in-situ hybridization. This allele is described as a severe hypomorph. (J:83881, J:131960)

Basic Information

Allele
Strain of Origin
Allele Type
Mutation
Inheritance
Related Gene
Related Disease
Reference
Not Specified
--
Insertion, Intragenic deletion
Recessive
1
3
4

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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