B6.C3-Gli3^Xt-J/J

Stock number: 000026
Product name: extra toes Jackson
Research areas: Developmental Biology Research, Mouse/Human Gene Homologs, Neurobiology Research, Sensorineural Research

Detailed description

Mice heterozygous for the extra toes-J spontaneous mutation (Gli3^Xt-J) have varying numbers of extra digits on preaxial side of feet. Homozygous mutant mice die in utero with multiple abnormalities. Excessively large pharyngeal arches and an open neural tube are evident at E9. Homologous to Grieg's cephalopoly-syndactyly, a rare multi-system syndrome in humans.

Allele

Symbol: Gli3^Xt-J
Name: extra toes Jackson
MGI accession ID: MGI:1856276
Generation method: Spontaneous
Marker symbol: Gli3
Marker name: GLI-Kruppel family member GLI3
Chromosome: 13
Strain of origin: C3H/HeJ
Molecular note: 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.
General note: Genbank ID for this allele: AF418601
Phenotypic Similarity to Human Syndrome: lambdoid suture craniosynostosis in homozygous mice (J:163175)