Phenotypes Associated with This Genotype

Genotype
MGI:8248845

• Allelic Composition: Cbfb^tm1Itan/Cbfb^tm1Itan; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: 129P2/OlaHsd * CD-1

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

skeleton

abnormal cranium morphology ( J:211343 )

• the skull is undercalcified and shows patent fontanelles

abnormal hyoid bone morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

• the underdevelopment of the hyoid bone is still apparent in 6-day-old mice

abnormal tooth morphology ( J:211343 )

• severely affected teeth

absent incisors ( J:211343 )

• incisors are completely absent or severely underdeveloped in mice at 17 days and 10 weeks of age

abnormal molar morphology ( J:211343 )

• molars are underdeveloped in mice at 17 days and 10 weeks of age

abnormal tooth development ( J:211343 )

• incisors and molars are underdeveloped at 17 days and 10 weeks of age

supernumerary teeth ( J:211343 )

• 10-week-old mice exhibit supernumerary teeth-like phenotype

abnormal mandible morphology ( J:211343 )

• mandibula is severely underdeveloped in newborns due to decreased ossification

mandibular retrognathia ( J:211343 )

• mandibular retrognathism

• underdeveloped mandibles and mandibular retrognathism result in a large gap inside the oral cavity causing an anterior open bite

abnormal cricoid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

abnormal thyroid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

abnormal long bone morphology ( J:211343 )

• underdeveloped long bones, leading to severe deformities

clavicle hypoplasia ( J:211343 )

• hypoplasia/aplasia of clavicles

abnormal bone marrow cavity size ( J:211343 )

• shorter medullary cavity in 10-week-old mice

decreased bone mineral density ( J:211343 )

decreased bone mineral density of femur ( J:211343 )

decreased bone volume ( J:211343 )

decreased osteoblast cell number ( J:211343 )

• mice show a decrease in osteoblast numbers, however the number of osteoclasts is not affected

decreased bone trabecula number ( J:211343 )

• femurs show an almost complete lack of trabecular bone

abnormal skeleton development ( J:211343 )

• every bone, except vertebrae and sternum, in 6-day-old mice is severely underdeveloped

impaired osteoblast differentiation ( J:211343 )

• primary calvarial cells show a decreased number of osteoblasts after 14 days of culture, indicating inhibited osteoblastogenesis

abnormal long bone epiphyseal plate proliferative zone ( J:211343 )

• proliferative zone is decreased and disorganized

• reduction in proliferating chondrocytes in both the resting and proliferation zones

decreased width of hypertrophic chondrocyte zone ( J:211343 )

• lack of hypertrophic chondrocytes

• reduction in chondrocytes of the hypertrophic region of the growth plate

decreased long bone epiphyseal plate size ( J:211343 )

• growth plate is shorted

• newborns have decreased cartilage and underdeveloped growth zones

disorganized long bone epiphyseal plate ( J:211343 )

• columns of proliferating and hypertrophic chondrocytes are less organized

decreased bone mineralization ( J:211343 )

• mice exhibit decreased bone mineralization and skeletal deformities

• primary calvarial cells show a reduction in mineralization after 21 days of culture

decreased bone ossification ( J:211343 )

• femurs show decreased growth and reduced ossification in 3-week-old mice

• mandibula, hyoid bone, thyroid cartilage, and cricoid cartilage in newborns is underdeveloped due to decreased ossification

delayed bone ossification ( J:211343 )

• mice show delayed bone ossification, with newborns having decreased ossification and endochondral bone formation

delayed endochondral bone ossification ( J:211343 )

• tibias show impaired endochondral bone ossification

delayed intramembranous bone ossification ( J:211343 )

• tibias show impaired intramembranous bone ossification

cellular

impaired osteoblast differentiation ( J:211343 )

• primary calvarial cells show a decreased number of osteoblasts after 14 days of culture, indicating inhibited osteoblastogenesis

craniofacial

abnormal cranium morphology ( J:211343 )

• the skull is undercalcified and shows patent fontanelles

abnormal hyoid bone morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

• the underdevelopment of the hyoid bone is still apparent in 6-day-old mice

abnormal tooth morphology ( J:211343 )

• severely affected teeth

absent incisors ( J:211343 )

• incisors are completely absent or severely underdeveloped in mice at 17 days and 10 weeks of age

abnormal molar morphology ( J:211343 )

• molars are underdeveloped in mice at 17 days and 10 weeks of age

abnormal tooth development ( J:211343 )

• incisors and molars are underdeveloped at 17 days and 10 weeks of age

supernumerary teeth ( J:211343 )

• 10-week-old mice exhibit supernumerary teeth-like phenotype

abnormal mandible morphology ( J:211343 )

• mandibula is severely underdeveloped in newborns due to decreased ossification

mandibular retrognathia ( J:211343 )

• mandibular retrognathism

• underdeveloped mandibles and mandibular retrognathism result in a large gap inside the oral cavity causing an anterior open bite

growth/size/body

abnormal hyoid bone morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

• the underdevelopment of the hyoid bone is still apparent in 6-day-old mice

abnormal tooth morphology ( J:211343 )

• severely affected teeth

absent incisors ( J:211343 )

• incisors are completely absent or severely underdeveloped in mice at 17 days and 10 weeks of age

abnormal molar morphology ( J:211343 )

• molars are underdeveloped in mice at 17 days and 10 weeks of age

abnormal tooth development ( J:211343 )

• incisors and molars are underdeveloped at 17 days and 10 weeks of age

supernumerary teeth ( J:211343 )

• 10-week-old mice exhibit supernumerary teeth-like phenotype

abnormal mandible morphology ( J:211343 )

• mandibula is severely underdeveloped in newborns due to decreased ossification

mandibular retrognathia ( J:211343 )

• mandibular retrognathism

• underdeveloped mandibles and mandibular retrognathism result in a large gap inside the oral cavity causing an anterior open bite

decreased body height ( J:211343 )

• 3-week-old mice exhibit disproportionally short stature

limbs/digits/tail

short limbs ( J:211343 )

respiratory system

abnormal cricoid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

abnormal thyroid cartilage morphology ( J:211343 )

• severely underdeveloped in newborns due to decreased ossification

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
cleidocranial dysplasia		DOID:13994	OMIM:119600 OMIM:216330	J:211343