Phenotypes Associated with This Genotype

Genotype
MGI:3721945

• Allelic Composition: Evc^tm1Jago/Evc^tm1Jago
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6

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

mortality/aging

postnatal lethality, complete penetrance ( J:124105 )

• half of mice born are dead by day 2

• mice survive to adulthood if fed soft, well-hydrated food

reproductive system

infertility ( J:124105 )

• mice do not breed

skeleton

abnormal basioccipital bone morphology ( J:124105 )

• the margin between the bone and cartilage at the basioccipital junction is irregular

abnormal tooth morphology ( J:124105 )

abnormal incisor morphology ( J:124105 )

• teeth anomalies include absence of upper incisor or a single incisor

abnormal molar morphology ( J:124105 )

• the first molar is frequently smaller

abnormal tibia morphology ( J:124105 )

• the upper end of the tibia is abnormally shaped

abnormal long bone epiphyseal plate proliferative zone ( J:124105 )

• embryonic growth plates have shorter proliferative and hypertrophic chondrocyte layers

decreased width of hypertrophic chondrocyte zone ( J:124105 )

decreased length of long bones ( J:124105 )

• shortening of the radius and ulna are more pronounced than shortening of the femur and tibia

short humerus ( J:124105 )

• at P18

short radius ( J:124105 )

• at P1 and P18

short ulna ( J:124105 )

• at P1 and P18

short femur ( J:124105 )

• at P1 and P18

short tibia ( J:124105 )

• at P1 and P18

abnormal costochondral joint morphology ( J:124105 )

• the margin between the bone and cartilage at the costochondral junction is irregular

short ribs ( J:124105 )

• at P1 and P18

abnormal thoracic cage shape ( J:124105 )

• the rib cage is narrow than in wild-type mice

small thoracic cage ( J:124105 )

• the rib cage is narrow and smaller than in wild-type mice

abnormal vertebral pedicle morphology ( J:124105 )

• premature mineralization of some of the pedicles between the vertebral bodies and vertebral laminae occurs

premature chondrocyte differentiation ( J:124105 )

• chondrocytes differentiate from columnar to hypertrophic occurs prematurely

delayed bone ossification ( J:124105 )

• there is a delay in the formation of the periosteum adjacent to the prehypertrophic and hypertrophic chondrocytes

• secondary ossification centers is delayed

growth/size/body

abnormal tooth morphology ( J:124105 )

abnormal incisor morphology ( J:124105 )

• teeth anomalies include absence of upper incisor or a single incisor

abnormal molar morphology ( J:124105 )

• the first molar is frequently smaller

decreased body size ( J:124105 )

• mice are smaller in size than wild-type mice

decreased body length ( J:124105 )

• at P18

behavior/neurological

aphagia ( J:124105 )

• mice do not eat normal food

limbs/digits/tail

short humerus ( J:124105 )

• at P18

short radius ( J:124105 )

• at P1 and P18

short ulna ( J:124105 )

• at P1 and P18

short femur ( J:124105 )

• at P1 and P18

abnormal tibia morphology ( J:124105 )

• the upper end of the tibia is abnormally shaped

short tibia ( J:124105 )

• at P1 and P18

short limbs ( J:124105 )

craniofacial

abnormal basioccipital bone morphology ( J:124105 )

• the margin between the bone and cartilage at the basioccipital junction is irregular

abnormal tooth morphology ( J:124105 )

abnormal incisor morphology ( J:124105 )

• teeth anomalies include absence of upper incisor or a single incisor

abnormal molar morphology ( J:124105 )

• the first molar is frequently smaller

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Ellis-Van Creveld syndrome		DOID:12714	OMIM:225500	J:124105