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Grhl3ct
Spontaneous Allele Detail
Summary
Symbol: Grhl3ct
Name: grainyhead like transcription factor 3; curly tail
MGI ID: MGI:1856837
Gene: Grhl3  Location: Chr4:135269199-135300941 bp, - strand  Genetic Position: Chr4, 67.76 cM
Alliance: Grhl3ct page
Grhl3ct/ Grhl3ct

Show the 1 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  GFF
Mutation
description
Allele Type:    Spontaneous
Mutation:    Single point mutation
 
Mutation details: 

A novel C-to-T nucleotide substitution (G-to-A on forward strand) was identified at -21,350 downstream of the start codon at position 135,594,774 (GRCm38) in the promoter/enhancer region of mutant genomic DNA, compared with the partially congenic wild-type strain which carries a region of SWR encompassing the ct locus. The C to T nucleotide substitution is not a known polymorphism according to dbSNP. The wild-type sequence, corresponding to nucleotide C, was also present in C57/BL6 and four other strains.

A bacterial artificial chromosome (BAC), containing the complete Grhl3 gene together with 120 kb of upstream sequence that encompasses the site of the putative ct mutation, completely rescued the curly tail phenotype when expressed in mutant mice.

Grhl3 expression was examined in caudal regions isolated from ct/ct embryos and equivalent somite staged ct/ct embryos that were matched for genetic background. At the 28-29 and 30-31 somite stages, which correspond to the final stages of spinal neurulation, Grhl3 mRNA was reduced in abundance in ct/ct embryos compared with wild-type by 56 and 41%, respectively, whereas no difference was apparent at the 25-27 somite stage. These findings support the idea that insufficient expression of Grhl3, in the hindgut endoderm located ventrally to the PNP, could be causally related to spina bifida in curly tail embryos. (J:129979)

Inheritance:    Recessive
Phenotypes
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View phenotypes and curated references for all genotypes (concatenated display).
Expression
In Mice Carrying this Mutation: 147 assay results
3 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation: 2 anatomical structure(s)
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 2 strains available      Cell Lines: 0 lines available
Carrying any Grhl3 Mutation:  53 strains or lines available
References
Original:  J:264 Gruneberg H, Genetical studies on the skeleton of the mouse. VIII. Curly-tail. J Genet. 1954;52(1):52-67
All:  47 reference(s)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/16/2024
MGI 6.23 		The Jackson Laboratory