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Spontaneous Allele Detail
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: Chr13:15463723-15730026 bp, + strand  Genetic Position: Chr13, 5.43 cM, cytoband A2

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

Strain of Origin:  C3H/HeJ
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
View phenotypes and curated references for all genotypes (concatenated display).
Disease models
In Mice Carrying this Mutation: 828 assay results
In Structures Affected by this Mutation: 34 anatomical structures
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:  10 strains or lines available
Genbank ID for this allele: AF418601
Phenotypic Similarity to Human Syndrome: lambdoid suture craniosynostosis in homozygous mice (J:163175)
Original:  J:78286 Dickie MM, Presumed recurrences of mutations. Mouse News Lett. 1967;36:60
All:  175 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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last database update
MGI 6.14
The Jackson Laboratory