These ENU-induced 7 toe (7t) mutants exhibit multiple limb patterning defects, including hindlimb polydactyly, hindpaw webbing, metatarsal fusions, failure of the tibia and fibia to fuse, and elongated 8th and 9th ribs. This mutant mouse strain may be useful in studies of skeletal development and germ cell lineage.
John Schimenti, Cornell University
Homozygotes: Mice that are homozygous for the mutation are viable and fertile. Mice exhibit multiple limb patterning defects, but not the germ cell depletion phenotype observed in other Zbtb16 alleles. Hindlimb polydactyly exists in 100% of mice however, other skeletal deformities exhibit varying degrees of penetrance including hindpaw webbing (20%), metatarsal fusions (13%), failure of the tibia and fibia to fuse (47%), thickened fibulae (40%), absence of the fibula (33%), elongated 8th and 9th ribs (73%) and malformed xiphoid processes (40%). The donating investigator indicates that homozygous mice weigh approximately 17% less than controls. This mutant mouse strain may be useful in studies of skeletal development and germ cell lineage.
Heterozygote: Less than 3% of heterozygotes exhibit the hindlimb polydactyly phenotype.
This missense point mutation was generated by ethylnitrosourea (ENU) mutagenesis in C57BL/6J males. Mutagenized males were outcrossed to C3HeB/FeJ females. The mutation results in an A to G change at nucleotide 379 altering the corresponding amino acid from glutamic acid to glycine at position 44. This strain has been backcrossed to C3HeB/FeJ for a minimum 6 of generations. Upon arrival, mice were bred to C3HeB/FeJ for at least 1 generation to establish the colony.
|Allele Name||seven toes|
|Allele Type||Chemically induced (ENU)|
|Allele Synonym(s)||7t; Plzf7t|
|Gene Symbol and Name||Zbtb16, zinc finger and BTB domain containing 16|
|Strain of Origin||C57BL/6J|
|Molecular Note||This ENU induced mutation has an A to G transition at nucleotide 379 of the cDNA, which alters amino acid 44 from the polar and acidic amino acid glutamic acid into the nonpolar neutral amino acid glycine (Glu44Gly). This amino acid resides in the conserved BTB (Bric-a-brac, Tramtrack, Broad-complex) or POZ (Poxvirus zinc finger) domain of the gene.|
|Mutations Made By|| |
Yung-Hao Ching, National Laboratory Animal Center
While maintaining a live colony, these mice are bred as homozygotes.
When using the C3Fe.B6-Zbtb167t/Mmjax mouse strain in a publication, please cite the originating article(s) and include MMRRC stock #33008 in your Materials and Methods section.