Phenotypes associated with this allele

• Allele Symbol: Evc^tm1Jago
• Allele Name: targeted mutation 1, Judith A Goodship
• Allele ID: MGI:3721399
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Evc^tm1Jago/Evc^tm1Jago	involves: 129S7/SvEvBrd	MGI:5440417
hm2	Evc^tm1Jago/Evc^tm1Jago	involves: 129S7/SvEvBrd * C57BL/6	MGI:3721945
cx3	Evc^tm1Jago/Evc^tm1Jago Evc2^tm1.1Vlrp/Evc2^tm1.1Vlrp	involves: 129 * 129S7/SvEvBrd * C57BL/6J	MGI:5441352

Genotype
MGI:5440417

hm1

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

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

mortality/aging

perinatal lethality, complete penetrance ( J:188176 )

Genotype
MGI:3721945

hm2

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

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

Genotype
MGI:5441352

cx3

• Allelic Composition: Evc^tm1Jago/Evc^tm1Jago; Evc2^tm1.1Vlrp/Evc2^tm1.1Vlrp
• Genetic Background: involves: 129 * 129S7/SvEvBrd * C57BL/6J

mortality/aging

perinatal lethality, complete penetrance ( J:188176 )

skeleton

impaired osteoblast differentiation ( J:188176 )

• in the perichondrium

basisphenoid bone foramen ( J:188176 )

abnormal presphenoid synchondrosis ( J:188176 )

• defects in the intrasphenoidal synchondrosis

abnormal long bone epiphyseal plate morphology ( J:188176 )

• most mice exhibit an ectopic protrusion of cartilage in the boundary between proliferating and hypertrophic chondrocytes in the proximal growth plate of the radius

abnormal long bone epiphyseal plate proliferative zone ( J:188176 )

• reduced

short ribs ( J:188176 )

abnormal chondrocyte physiology ( J:188176 )

• decreased proliferation in the growth plate

cellular

impaired osteoblast differentiation ( J:188176 )

• in the perichondrium

craniofacial

basisphenoid bone foramen ( J:188176 )

abnormal presphenoid synchondrosis ( J:188176 )

• defects in the intrasphenoidal synchondrosis

limbs/digits/tail

short limbs ( J:188176 )