Analysis Tools|
Allele Symbol Allele Name Allele ID |
Kdm6atm1c(EUCOMM)Wtsi targeted mutation 1c, Wellcome Trust Sanger Institute MGI:5516010 |
||||||||||||||||||||||||||||||||||||||||||||
| Summary |
10 genotypes
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• some survival to E12.5
|
|
|
• in about half of embryos
|
|
|
• in about half of embryos
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• no females recovered at E18.5
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• females die at birth and cannot be recovered at weaning, due to deficiencies in lung inflation at birth
|
|
• lungs fail to inflate at birth
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
 |
• dome-shaped forehead
|
|
|
• enhanced frontonasal depression
|
|
|
|
|
|
• dome-shaped forehead
|
|
|
• enhanced frontonasal depression
|
|
|
|
|
|
• narrow palpebral fissures
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• partially penetrant
|
|
|
• in some cases the palatine bone fails to fuse at the midline
|
|
|
• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation
|
|
|
• partially penetrant
|
|
|
• in some cases the palatine bone fails to fuse at the midline
|
|
|
• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation
|
|
|
• partially penetrant
|
|
|
• in some cases the palatine bone fails to fuse at the midline
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• partially penetrant
|
|
|
• in some cases the palatine bone fails to fuse at the midline
|
|
|
• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation
|
|
|
• partially penetrant
|
|
|
• in some cases the palatine bone fails to fuse at the midline
|
|
|
• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation
|
|
|
• partially penetrant
|
|
|
• in some cases the palatine bone fails to fuse at the midline
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• mild craniofacial features
|
|
|
• males show increased facial angle producing a more prominent forehead
• alternations in facial angle are seen at E18.5
|
|
|
• males exhibit mildly depressed nasal tip
|
|
|
• frontonasal hypoplasia with depressed snout
|
|
|
• males show increased facial angle producing a more prominent forehead
• alternations in facial angle are seen at E18.5
|
|
|
• males exhibit mildly depressed nasal tip
|
|
|
• frontonasal hypoplasia with depressed snout
|
|
|
• mice show reduction in weight starting at P3 that persists throughout adulthood
|
|
|
• males exhibit mildly depressed nasal tip
|
|
|
• males exhibit mildly reduced palpebral fissures
|
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• patent ductus arteriosus congenital heart defects without abnormalities in ventricular septal closure
|
|
|
• patent ductus arteriosus congenital heart defects without abnormalities in ventricular septal closure
|
|
|
• craniofacial skeletal abnormalities manifest in embryonic development
• however, posterior cranial structures such as parietal bones derived from non-neural crest origins are unaffected
|
|
|
• mice show no deficiencies in cartilage distribution, but exhibit a persistence of mandibular cartilage
|
|
|
• females exhibit greater facial depression, a broader dome-shaped forehead
• alternations in facial angle are seen at E18.5
|
|
|
• dramatic shortening of frontal bones
|
|
|
• E18.5 cranial regions show decreased frontal bone thickness
|
|
|
• dramatic shortening of nasal bones
• however, gross bone composition is normal
|
|
|
• partially penetrant cleft palate
|
|
|
• mice show severely depressed nasal tip
|
|
|
• rounded low-set earlobes
|
|
|
• partially penetrant cleft palate
|
|
|
• females exhibit greater facial depression, a broader dome-shaped forehead
• alternations in facial angle are seen at E18.5
|
|
|
• dramatic shortening of frontal bones
|
|
|
• E18.5 cranial regions show decreased frontal bone thickness
|
|
|
• dramatic shortening of nasal bones
• however, gross bone composition is normal
|
|
|
• partially penetrant cleft palate
|
|
|
• mice show severely depressed nasal tip
|
|
|
• rounded low-set earlobes
|
|
|
• mice show reduction in weight starting at P3 that persists throughout adulthood
• growth retardation is more severe than in males
|
|
|
• rounded low-set earlobes
|
|
|
• approximately 40% die before weaning
|
|
|
• dramatic shortening of nasal bones
• however, gross bone composition is normal
|
|
|
• mice show severely depressed nasal tip
|
|
|
• mice show no deficiencies in cartilage distribution, but exhibit a persistence of mandibular cartilage
|
|
|
• dramatic shortening of frontal bones
|
|
|
• E18.5 cranial regions show decreased frontal bone thickness
|
|
|
• dramatic shortening of nasal bones
• however, gross bone composition is normal
|
|
|
• severe palpebral fissure reduction
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Kabuki syndrome | DOID:0060473 |
OMIM:147920 OMIM:300867 |
J:249358 | |
|
|
| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
|
|
• hemizygous males are reduced 55% from expected numbers
• numbers at E18.5 were as expected
|
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
||
|
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support. |
last database update 06/09/2026 MGI 6.24 |
|
|
|
||
