- Dlx6 [Search on AGR]
Mus musculus PHENOTYPE: Homozygotes for targeted null mutations at both Dlx5 and Dlx6 exhibit bilateral ectrodactyly, homeotic transformation of the lower jaw into an upper jaw, and perinatal lethality. [provided by MGI curators]
- PGAP1 [Search on AGR]
Mus musculus PHENOTYPE: Mutations in this gene result in a variety of forebrain, eye, jaw, craniofacial, ear, and vertebra defects that are background sensitive. [provided by MGI curators]
- Mut579 [Search on AGR]
Mus musculus PHENOTYPE: Mice homozygous for a radiation-induced mutation exhibit embryonic lethality. A subset of heterozygotes display a short snout, abnormal jaw morphology, and microphthalmia. [provided by MGI curators]
- Gena119 [Search on AGR]
Mus musculus PHENOTYPE: Mice heterozygous for an ENU-induced allele exhibit abnormal trunk curling and limb grasping when held by tail and some have tail kink, squint jaw. [provided by MGI curators]
- Egr2 [Search on AGR]
Mus musculus PHENOTYPE: Homozygotes for targeted mutations exhibit absence of rhombomeres 3 and 5 of the hindbrain affecting axonal migration, disrupted myelination of Schwann cells, slow respiratory and jaw opening rhythms, skeletal abnormalities, and perinatal lethality. [provided by MGI curators]
- Cacna1s [Search on AGR]
Mus musculus PHENOTYPE: Homozygous mutants show edema and failure of myoblast differentiation by day 13 of embryonic development and die perinatally. All muscles degenerate and additional secondary anomalies of the skeleton, short jaw, and cleft palate are seen. [provided by MGI curators]
- gpg3 [Search on AGR]
Mus musculus PHENOTYPE: Homozygotes for this ENU-induced mutation exhibit left-right patterning defects in cardiovascular and stomach development, partial penetrance of eye abnormalities, absent lungs, micrognathia, tongue fused to the lower jaw, exencephaly, edema, polydactyly, and short embryonic cilia. [provided by MGI curators]
- Gskip [Search on AGR]
Mus musculus PHENOTYPE: Mice homozygous for a knock-out allele exhibit partial lethality between E16.5 and E1.5, complete lethality at birth, cyanosis, primary atelectasis resulting in respiratory failure and cleft secondary palate due to delayed ossification in the upper jaw. [provided by MGI curators]
- Cdc73 [Search on AGR]
Homo sapiens This gene encodes a tumor suppressor that is involved in transcriptional and post-transcriptional control pathways. The protein is a component of the the PAF protein complex, which associates with the RNA polymerase II subunit POLR2A and with a histone methyltransferase complex. This protein appears to facilitate the association of 3' mRNA processing factors with actively-transcribed chromatin. Mutations in this gene have been linked to hyperparathyroidism-jaw tumor syndrome, familial isolated hyperparathyroidism, and parathyroid carcinoma. [provided by RefSeq, Jul 2009]
- CASK [Search on AGR]
Mus musculus PHENOTYPE: Mutation of this gene results in cleft palate and perinatal lethality in hemizygous males and death within 2 weeks in females on a C57BL/6J background. Some female animals on a CD1 background survive to adulthood exhibiting patchy fur, wrinkled skin, a kinked tail and spine, and give birth to small and infrequent litters. Male and female animals on all genetic backgrounds exhibit reduced head size, shortened jaw, and a pointed snout. [provided by MGI curators]