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Gli3Xt-J
Spontaneous Allele Detail
Nomenclature
Symbol: Gli3Xt-J
Name: GLI-Kruppel family member GLI3; extra toes Jackson
MGI ID: MGI:1856276
Synonyms: extra-toes J, Gli3-, Gli3delta, Gli3Xt, Gli3XtJ, xt, XtJ, XtJ
Gene: Gli3  Location: Chr13:15463235-15730026 bp, + strand  Genetic Position: Chr13, 5.43 cM, cytoband A2
Gli3Xt-J/+

Show the 3 phenotype image(s) involving this allele.

Mutation
origin
Strain of Origin:  C3H/HeJ
Mutation
description
Allele Type:    Spontaneous
Mutation:    Intragenic deletion
 
Mutation detailsGenomic sequencing and PCR analysis identified the mutation as a 51.5 kb deletion. The deleted region contains all Gli3 coding sequences 3' to exon 9, which includes sequences encoding some, but not all, of the zinc finger domains. This deletion results in the expression of an abnormal transcript that fuses Gli3 sequences to an exon belonging to an apparent LTR/MaLR repetitive element. However, this transcript lacks the sequences required for normal GLI3 activity. (J:4086, J:48982, J:76587)
Inheritance:    Semidominant
Phenotypes
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Disease models
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Expression
In Mice Carrying this Mutation: 549 assay results
Find Mice (IMSR)
Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
Carrying this Mutation:  Mouse Strains: 3 strains available      Cell Lines: 0 lines available
Carrying any Gli3 Mutation:  13 strains or lines available
Notes
Genbank ID for this allele: AF418601
Phenotypic Similarity to Human Syndrome: lambdoid suture craniosynostosis in homozygous mice (J:163175)

References
Original:  J:78286 Dickie MM, Presumed recurrences of mutations. Mouse News Lett. 1967;36:60
All:  148 reference(s)

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
03/24/2015
MGI 5.21
The Jackson Laboratory