Phenotypes Associated with This Genotype

Genotype
MGI:5604132

• Allelic Composition: Hand1^tm2Eno/Hand1^tm3Abfi; E2f1^{Tg(Wnt1-cre)2Sor}/E2f1⁺
• Genetic Background: involves: 129S6/SvEvTac * C3H * C57BL/6

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

mortality/aging

neonatal lethality ( J:214092 )

craniofacial

basisphenoid bone hypoplasia ( J:214092 )

nasal bone hypoplasia ( J:214092 )

• nasal bone is present but hypoplastic

abnormal craniofacial development ( J:214092 )

• distances between the lateral nasal prominences and the olfactory pits are extended at E10.5 and E11.5

• however craniofacial defects are less severe than in single conditional Hand1^tm3Abfi heterozygotes; the squamosal, jugal, and tympanic ringbones appear normal, as does the premaxilla and the mandible, there is improvement in the pterygoid bones, the size of the lamina obturans and sqamosal bones are improved, and sagittal sutures appear normal

abnormal maxillary prominence morphology ( J:214092 )

• maxillary processes are symmetrically reduced in size

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 fail to fuse

abnormal pharyngeal arch morphology ( J:214092 )

• E9.5 embryos exhibit increased cell death within the pharyngeal arch mesenchyme compared to controls, however level of cell death is decreased compared to the single conditional Hand1^tm3Abfi heterozygotes

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 )

• at E14.5

midline facial cleft ( J:214092 )

• 100% penetrance of mid-face clefts, which are obvious at E12.5

• the trabecular basal pate is better developed, although there is still a cleft between the palatal processes of the palatine and maxilla bones and between the two halves of the premaxilla

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 fail to fuse

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 increased cell death within the pharyngeal arch mesenchyme compared to controls, however level of cell death is decreased compared to the single conditional Hand1^tm3Abfi heterozygotes

growth/size/body

nasal bone hypoplasia ( J:214092 )

• nasal bone is present but hypoplastic

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 fail to fuse

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 )

• at E14.5

midline facial cleft ( J:214092 )

• 100% penetrance of mid-face clefts, which are obvious at E12.5

• the trabecular basal pate is better developed, although there is still a cleft between the palatal processes of the palatine and maxilla bones and between the two halves of the premaxilla

respiratory system

nasal bone hypoplasia ( J:214092 )

• nasal bone is present but hypoplastic

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5

absent nasal septum ( J:214092 )

• at E14.5

skeleton

basisphenoid bone hypoplasia ( J:214092 )

nasal bone hypoplasia ( J:214092 )

• nasal bone is present but hypoplastic

abnormal nasal capsule morphology ( J:214092 )

• nasal capsule remains unfused at E18.5