Phenotypes Associated with This Genotype

Genotype
MGI:7333171

• Allelic Composition: H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺; Kmt2d^tm2.1Kaig/Kmt2d^tm2.1Kaig
• Genetic Background: involves: C57BL/6J * CBA/J

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

mortality/aging

neonatal lethality, complete penetrance ( J:294895 )

• die at birth

nervous system

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

craniofacial

abnormal neurocranium morphology ( J:294895 )

abnormal basisphenoid bone morphology ( J:294895 )

• abnormally shaped at birth

• significant reduction in chondrocyte hypertrophic differentiation and bone deposition in the anterior growth zone

• alterations in the ossification zone are not as severe as in the presphenoid bone

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• absence of presphenoid bone deposition at birth

• decrease in the length of the chondrocyte hypertrophic zones with a decrease in the amount of hypertrophic differentiation

small presphenoid bone ( J:294895 )

• reduced

abnormal pterygoid process morphology ( J:294895 )

• underdeveloped

abnormal temporal bone tympanic part morphology ( J:294895 )

• underdeveloped

abnormal viscerocranium morphology ( J:294895 )

short frontal bone ( J:294895 )

abnormal hyoid bone morphology ( J:294895 )

• absence of hyoid bone ossification

mandibular condyloid process hypoplasia ( J:294895 )

• condylar process is particularly underdeveloped with a lack of condylar cartilage

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

abnormal palatine bone morphology ( J:294895 )

• underdeveloped

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

face hypoplasia ( J:294895 )

• severe facial hypoplasia with shortened frontonasal structures

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

embryo

abnormal cranial neural crest cell morphology ( J:294895 )

• neural crest cells in the supraorbital arch have a laterally shifted pattern of osteoblast and chondrocyte differentiation

skeleton

abnormal neurocranium morphology ( J:294895 )

abnormal basisphenoid bone morphology ( J:294895 )

• abnormally shaped at birth

• significant reduction in chondrocyte hypertrophic differentiation and bone deposition in the anterior growth zone

• alterations in the ossification zone are not as severe as in the presphenoid bone

small basisphenoid bone ( J:294895 )

• reduced

abnormal presphenoid bone morphology ( J:294895 )

• absence of presphenoid bone deposition at birth

• decrease in the length of the chondrocyte hypertrophic zones with a decrease in the amount of hypertrophic differentiation

small presphenoid bone ( J:294895 )

• reduced

abnormal pterygoid process morphology ( J:294895 )

• underdeveloped

abnormal temporal bone tympanic part morphology ( J:294895 )

• underdeveloped

abnormal viscerocranium morphology ( J:294895 )

short frontal bone ( J:294895 )

abnormal hyoid bone morphology ( J:294895 )

• absence of hyoid bone ossification

mandibular condyloid process hypoplasia ( J:294895 )

• condylar process is particularly underdeveloped with a lack of condylar cartilage

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

abnormal palatine bone morphology ( J:294895 )

• underdeveloped

abnormal osteoblast morphology ( J:294895 )

• at E13.5 in the supraorbital frontal primordia the osteoblast and pre-osteoblast domains are positioned more laterally compared to controls

abnormal chondrocyte morphology ( J:294895 )

• at E13.5 in the supraorbital frontal primordia the medial chondrocyte domain extends laterally

abnormal endochondral bone ossification ( J:294895 )

• absence of neural crest cell based endochondral ossification in the hyoid bone

• absence of presphenoid bone ossification at birth

• impaired ossification in the cranial base

growth/size/body

abnormal viscerocranium morphology ( J:294895 )

short frontal bone ( J:294895 )

abnormal hyoid bone morphology ( J:294895 )

• absence of hyoid bone ossification

mandibular condyloid process hypoplasia ( J:294895 )

• condylar process is particularly underdeveloped with a lack of condylar cartilage

mandible hypoplasia ( J:294895 )

short nasal bone ( J:294895 )

abnormal palatine bone morphology ( J:294895 )

• underdeveloped

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

face hypoplasia ( J:294895 )

• severe facial hypoplasia with shortened frontonasal structures

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

digestive/alimentary system

abnormal palatal shelf morphology ( J:294895 )

• at E13.5 lack vertical outgrowth and extension of the distal tip of the anterior palatal shelf

• at E13.5 palatal shelves are deficient in OSX+ osteoblast differentiation

• at E14.25 enrichment of extracellular membrane components is missing and the distal extension is abnormally shaped

cleft palate ( J:294895 )

• fully penetrant

glossoptosis ( J:294895 )

• at E13.5 the tongue is located more posterior relative to the anterior palatal domain

respiratory system

short nasal bone ( J:294895 )