Phenotypes Associated with This Genotype

Genotype
MGI:5702613

• Allelic Composition: Ccdc154^ntl/Ccdc154^ntl
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

premature death ( J:226596 )

• mice die shortly after weaning

• however, mice fed a liquid diet survive

skeleton

absent molar root ( J:226596 )

failure of tooth eruption ( J:226596 )

• however, mice treated with fetal liver cell transplantation exhibit a rescue tooth eruption

abnormal tooth root development ( J:226596 )

• extensive odontoma-like proliferations around the malformed roots of the incisors in both the mandible and maxilla

• however, no molar-associated odontoma-like proliferations are observed

abnormal bone marrow cavity morphology ( J:226596 )

• lack of prominent bone marrow cavity

increased bone mineral density ( J:226596 )

• with a club-shaped characteristics

decreased compact bone thickness ( J:226596 )

decreased bone trabecular spacing ( J:226596 )

increased trabecular bone thickness ( J:226596 )

osteopetrosis ( J:226596 )

• however, mice treated with fetal liver cell transplantation exhibit a rescue of various osteoporosis features

decreased bone resorption ( J:226596 )

growth/size/body

absent molar root ( J:226596 )

failure of tooth eruption ( J:226596 )

• however, mice treated with fetal liver cell transplantation exhibit a rescue tooth eruption

abnormal tooth root development ( J:226596 )

• extensive odontoma-like proliferations around the malformed roots of the incisors in both the mandible and maxilla

• however, no molar-associated odontoma-like proliferations are observed

decreased body size ( J:226596 )

enlarged liver ( J:226596 )

• varied severity among individuals

enlarged spleen ( J:226596 )

• varied severity among individuals

liver/biliary system

enlarged liver ( J:226596 )

• varied severity among individuals

craniofacial

absent molar root ( J:226596 )

failure of tooth eruption ( J:226596 )

• however, mice treated with fetal liver cell transplantation exhibit a rescue tooth eruption

abnormal tooth root development ( J:226596 )

• extensive odontoma-like proliferations around the malformed roots of the incisors in both the mandible and maxilla

• however, no molar-associated odontoma-like proliferations are observed

hematopoietic system

enlarged spleen ( J:226596 )

• varied severity among individuals

immune system

enlarged spleen ( J:226596 )

• varied severity among individuals

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
autosomal recessive osteopetrosis 1		DOID:0110942	OMIM:259700	J:226596