Phenotypes Associated with This Genotype

Genotype
MGI:3715253

• Allelic Composition: Hand2^tm1Cse/Hand2^tm1Dsr
• Genetic Background: involves: 129S1/Sv * 129S7/SvEvBrd * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:122604 )

• pups die within a day of birth with cleft palates

behavior/neurological

abnormal suckling behavior ( J:122604 )

• newborn pups cannot feed

craniofacial

abnormal primary and secondary palatal fusion ( J:122604 )

• the primary palate forms, but growth is incomplete and primary palates fails to fuse with secondary palate

palatal shelves fail to meet at midline ( J:149232 )

• at E15.5 palatal shelves have elevated to the horizontal level, but appear short and misaligned and the posterior area of palate has not elevated

• excessive apoptosis of periderm cells of the surface epithelium is observed in medial edge epithelium (MEE); basal layer epithelial cells do not show increased apoptosis

decreased palatal shelf size ( J:149232 )

• at E13.5, shelves are positioned normally, but appear slightly smaller than controls

cleft secondary palate ( J:122604 )

• the secondary palate contains a wide cleft in the anterior and mid-section

abnormal palatal shelf elevation ( J:149232 )

• at E14.4, palatal shelves fail to elevate and remain in a vertical position at sides of tongue

• at E15.5 palatal shelves have elevated to the horizontal level, but appear short and misaligned and the posterior area of palate has not elevated

tongue hypoplasia ( J:149232 )

• tongue is hypoplastic at E14.5

digestive/alimentary system

abnormal primary and secondary palatal fusion ( J:122604 )

• the primary palate forms, but growth is incomplete and primary palates fails to fuse with secondary palate

palatal shelves fail to meet at midline ( J:149232 )

• at E15.5 palatal shelves have elevated to the horizontal level, but appear short and misaligned and the posterior area of palate has not elevated

• excessive apoptosis of periderm cells of the surface epithelium is observed in medial edge epithelium (MEE); basal layer epithelial cells do not show increased apoptosis

decreased palatal shelf size ( J:149232 )

• at E13.5, shelves are positioned normally, but appear slightly smaller than controls

cleft secondary palate ( J:122604 )

• the secondary palate contains a wide cleft in the anterior and mid-section

abnormal palatal shelf elevation ( J:149232 )

• at E14.4, palatal shelves fail to elevate and remain in a vertical position at sides of tongue

• at E15.5 palatal shelves have elevated to the horizontal level, but appear short and misaligned and the posterior area of palate has not elevated

tongue hypoplasia ( J:149232 )

• tongue is hypoplastic at E14.5

growth/size/body

abnormal primary and secondary palatal fusion ( J:122604 )

• the primary palate forms, but growth is incomplete and primary palates fails to fuse with secondary palate

palatal shelves fail to meet at midline ( J:149232 )

• at E15.5 palatal shelves have elevated to the horizontal level, but appear short and misaligned and the posterior area of palate has not elevated

• excessive apoptosis of periderm cells of the surface epithelium is observed in medial edge epithelium (MEE); basal layer epithelial cells do not show increased apoptosis

decreased palatal shelf size ( J:149232 )

• at E13.5, shelves are positioned normally, but appear slightly smaller than controls

cleft secondary palate ( J:122604 )

• the secondary palate contains a wide cleft in the anterior and mid-section

abnormal palatal shelf elevation ( J:149232 )

• at E14.4, palatal shelves fail to elevate and remain in a vertical position at sides of tongue

• at E15.5 palatal shelves have elevated to the horizontal level, but appear short and misaligned and the posterior area of palate has not elevated

tongue hypoplasia ( J:149232 )

• tongue is hypoplastic at E14.5