Phenotypes Associated with This Genotype

Genotype
MGI:7339041

• Allelic Composition: Tfrc^tm3.1Nca/Tfrc^tm3.1Nca; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * CBA/J

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

mortality/aging

neonatal lethality, complete penetrance ( J:316198 )

• all die within 24 hrs of birth

respiratory system

respiratory distress ( J:316198 )

• severe

behavior/neurological

abnormal suckling behavior ( J:316198 )

• unable to suckle

craniofacial

abnormal Meckel's cartilage morphology ( J:316198 )

• at P0 no mature Meckel's cartilages are seen at the proximal end junction to the malleus

small Meckel's cartilage ( J:316198 )

• at E14.5 Meckel's cartilages are smaller and he proximal arms are not articulated with the middle ear capsule and the distal tips are not fused

abnormal hyoid bone morphology ( J:316198 )

• deformed

abnormal mandible morphology ( J:316198 )

• excessively curved which widens the distance between bilateral mandibular bones

abnormal mandibular angle morphology ( J:316198 )

• secondary cartilage is nearly missing

small mandibular condyloid process ( J:316198 )

• severely blocked or delayed

small mandibular coronoid process ( J:316198 )

• severely blocked or delayed

short mandible ( J:316198 )

micrognathia ( J:316198 )

abnormal gonial bone morphology ( J:316198 )

• deformed

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

abnormal tongue morphology ( J:316198 )

• arched tongue

oral cleft ( J:316198 )

• incomplete oral closure

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

hearing/vestibular/ear

abnormal gonial bone morphology ( J:316198 )

• deformed

abnormal tympanic ring morphology ( J:316198 )

• deformed

digestive/alimentary system

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

abnormal tongue morphology ( J:316198 )

• arched tongue

growth/size/body

abnormal secondary palate development ( J:316198 )

• expression analysis indicates abnormal osteochondrogenic differentiation

abnormal tongue morphology ( J:316198 )

• arched tongue

oral cleft ( J:316198 )

• incomplete oral closure

failure of palatal shelf elevation ( J:316198 )

• fail to elevate above the tongue

• both the palatal process of palatine and palatal process of maxilla fail to elevate and fuse

complete cleft palate ( J:316198 )

• complete cleft palate

skeleton

abnormal Meckel's cartilage morphology ( J:316198 )

• at P0 no mature Meckel's cartilages are seen at the proximal end junction to the malleus

small Meckel's cartilage ( J:316198 )

• at E14.5 Meckel's cartilages are smaller and he proximal arms are not articulated with the middle ear capsule and the distal tips are not fused

abnormal hyoid bone morphology ( J:316198 )

• deformed

abnormal mandible morphology ( J:316198 )

• excessively curved which widens the distance between bilateral mandibular bones

abnormal mandibular angle morphology ( J:316198 )

• secondary cartilage is nearly missing

small mandibular condyloid process ( J:316198 )

• severely blocked or delayed

small mandibular coronoid process ( J:316198 )

• severely blocked or delayed

short mandible ( J:316198 )

micrognathia ( J:316198 )

abnormal gonial bone morphology ( J:316198 )

• deformed

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Weissenbacher-Zweymuller syndrome		DOID:4258	OMIM:261800	J:316198