Phenotypes Associated with This Genotype

Genotype
MGI:5604134

• Allelic Composition: Hand1^tm3Abfi/Hand1⁺; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: C3H * C57BL/6

• ♀: phenotype observed in females
• ♂: phenotype observed in males
• N: normal phenotype

mortality/aging

neonatal lethality ( J:214092 )

craniofacial

abnormal sagittal suture morphology ( J:214092 )

• both sagittal sutures are aberrantly fused

abnormal basicranium morphology ( J:214092 )

• skull base defects

basisphenoid bone hypoplasia ( J:214092 )

• severely underdeveloped

short Meckel's cartilage ( J:214092 )

• Meckels cartilage (mandibular arch) is truncated at its origin with the malleus

frontal bone hypoplasia ( J:214092 )

• frontal bones are hypoplastic leading to a large gap between the frontal bones

interparietal bone hypoplasia ( J:214092 )

abnormal alisphenoid bone morphology ( J:214092 )

• lamina obturans (the bony portion of the future alisphenoid that abuts the squamosal bone) is missing

pterygoid bone hypoplasia ( J:214092 )

• severely underdeveloped

absent temporal bone squamous part ( J:214092 )

mandible hypoplasia ( J:214092 )

• proximal mandible is hypoplastic, with the two halves failing to meet at the midline

abnormal maxilla morphology ( J:214092 )

• a portion of the maxilla closest to the frontal bone is missing

short premaxilla ( J:214092 )

absent nasal bone ( J:214092 )

zygomatic bone hypoplasia ( J:214092 )

• the jugal bone, the middle bone of the zygomatic arch is hypoplastic

abnormal Reichert's cartilage morphology ( J:214092 )

• the cartilage anlage of the hyoid bone (second arch) is poorly ossified and deformed at the midline

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

abnormal secondary palate development ( J:214092 )

• near complete loss of the secondary palate at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity

abnormal pharyngeal arch morphology ( J:214092 )

• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death

abnormal tongue position ( J:214092 )

• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

absent nasal septum ( J:214092 )

midline facial cleft ( J:214092 )

• failure of the palatine bones and the palatal processes of the maxilla to fuse

• however, the malleus and incus (mandibular arch) and the stapes appear normal at E17

digestive/alimentary system

abnormal secondary palate development ( J:214092 )

• near complete loss of the secondary palate at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity

abnormal tongue position ( J:214092 )

• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

embryo

abnormal pharyngeal arch morphology ( J:214092 )

• E9.5 embryos exhibit a reduction in the developmental dorso-lateral cell death domains while showing an increase in pharyngeal arch cell death

growth/size/body

absent nasal bone ( J:214092 )

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

abnormal secondary palate development ( J:214092 )

• near complete loss of the secondary palate at E18.5

abnormal palatal shelf fusion at midline ( J:214092 )

• palatal shelves are not fused, resulting in aberrant communication between the nasopharynx and oral cavity

abnormal tongue position ( J:214092 )

• tongue fails to drop at E14.5 at the time that palatal shelves fail to fuse

absent nasal septum ( J:214092 )

midline facial cleft ( J:214092 )

• failure of the palatine bones and the palatal processes of the maxilla to fuse

• however, the malleus and incus (mandibular arch) and the stapes appear normal at E17

respiratory system

absent nasal bone ( J:214092 )

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

absent nasal septum ( J:214092 )

skeleton

abnormal sagittal suture morphology ( J:214092 )

• both sagittal sutures are aberrantly fused

abnormal basicranium morphology ( J:214092 )

• skull base defects

basisphenoid bone hypoplasia ( J:214092 )

• severely underdeveloped

short Meckel's cartilage ( J:214092 )

• Meckels cartilage (mandibular arch) is truncated at its origin with the malleus

frontal bone hypoplasia ( J:214092 )

• frontal bones are hypoplastic leading to a large gap between the frontal bones

interparietal bone hypoplasia ( J:214092 )

abnormal alisphenoid bone morphology ( J:214092 )

• lamina obturans (the bony portion of the future alisphenoid that abuts the squamosal bone) is missing

pterygoid bone hypoplasia ( J:214092 )

• severely underdeveloped

absent temporal bone squamous part ( J:214092 )

mandible hypoplasia ( J:214092 )

• proximal mandible is hypoplastic, with the two halves failing to meet at the midline

abnormal maxilla morphology ( J:214092 )

• a portion of the maxilla closest to the frontal bone is missing

short premaxilla ( J:214092 )

absent nasal bone ( J:214092 )

zygomatic bone hypoplasia ( J:214092 )

• the jugal bone, the middle bone of the zygomatic arch is hypoplastic

abnormal Reichert's cartilage morphology ( J:214092 )

• the cartilage anlage of the hyoid bone (second arch) is poorly ossified and deformed at the midline

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5