Gli3^Xt-J
Spontaneous Allele Detail

Summary

• Symbol: Gli3^Xt-J
• Name: GLI-Kruppel family member GLI3; extra toes Jackson
• MGI ID: MGI:1856276
• Synonyms: extra-toes ^J, Gli3^-, Gli3^delta, Gli3^Xt, Gli3^XtJ, xt, Xt^J, XtJ
• Gene: Gli3 Location: Chr13:15638308-15904611 bp, + strand Genetic Position: Chr13, 5.43 cM, cytoband A2
• Alliance: Gli3^Xt-J page

Gli3^Xt-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 details: Genomic 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

Disease models

Expression

In Mice Carrying this Mutation:	1130 assay results 5 RNA-Seq or microarray experiment(s)
In Structures Affected by this Mutation:	30 anatomical structure(s)

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: 81 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: 196 reference(s)