Phenotypes Associated with This Genotype

Genotype
MGI:6150914

• Allelic Composition: Rnf146^tm1.1Rtpl/Rnf146^tm1.1Rtpl; Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
• Genetic Background: involves: C57BL/6J * CD-1

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

mortality/aging

neonatal lethality, complete penetrance ( J:244583 )

• mice die shortly after birth due to respiratory distress

skeleton

skeleton phenotype ( J:244583 )

N • mice exhibit normal major and minor bone diameter and periosteal and endosteal perimeter

N • mice exhibit normal osteoclast number and function

increased bone marrow adipose tissue amount ( J:244583 )

• 40-fold in tibial bone marrow fat stores

impaired osteoblast differentiation ( J:244583 )

decreased osteoblast proliferation ( J:244583 )

large anterior fontanelle ( J:244583 )

• with calvarial hypomineralization

large posterior fontanelle ( J:244583 )

• with calvarial hypomineralization

abnormal alveolar process morphology ( J:244583 )

• hypoplasia of the periodontal alveolar bone and enamel

abnormal ameloblast differentiation ( J:244583 )

• loss of polarization

abnormal limb long bone morphology ( J:244583 )

• severely hypoplastic

clavicle hypoplasia ( J:244583 )

abnormal rib morphology ( J:244583 )

• severely hypoplastic

decreased bone mineral density ( J:244583 )

• in trabecular bone

decreased compact bone volume ( J:244583 )

decreased trabecular bone volume ( J:244583 )

decreased compact bone thickness ( J:244583 )

decreased osteoblast cell number ( J:244583 )

decreased bone trabecula number ( J:244583 )

• however, trabecular thickness is normal

increased bone trabecular spacing ( J:244583 )

decreased bone mineralization ( J:244583 )

• calvarial hypomineralization, which is more severe than in Tg(Sp7-tTA,tetO-EGFP/cre)1Amc hemizygous mice

abnormal endochondral bone ossification ( J:244583 )

• impaired

• however, chondrocyte differentiation is normal

abnormal intramembranous bone ossification ( J:244583 )

decreased bone ossification ( J:244583 )

homeostasis/metabolism

decreased insulin secretion ( J:244583 )

• reduced production

increased circulating glucose level ( J:244583 )

decreased circulating insulin level ( J:244583 )

• defective glucose-stimulated insulin secretion

decreased circulating osteocalcin level ( J:244583 )

• reduced undercarboxylated osteocalcin serum levels

increased circulating triglyceride level ( J:244583 )

impaired glucose tolerance ( J:244583 )

adipose tissue

increased total body fat amount ( J:244583 )

• 2-fold

increased bone marrow adipose tissue amount ( J:244583 )

• 40-fold in tibial bone marrow fat stores

growth/size/body

abnormal alveolar process morphology ( J:244583 )

• hypoplasia of the periodontal alveolar bone and enamel

abnormal ameloblast differentiation ( J:244583 )

• loss of polarization

respiratory system

respiratory distress ( J:244583 )

endocrine/exocrine glands

decreased pancreatic islet number ( J:244583 )

small pancreatic islets ( J:244583 )

decreased insulin secretion ( J:244583 )

• reduced production

cellular

impaired osteoblast differentiation ( J:244583 )

decreased osteoblast proliferation ( J:244583 )

craniofacial

large anterior fontanelle ( J:244583 )

• with calvarial hypomineralization

large posterior fontanelle ( J:244583 )

• with calvarial hypomineralization

abnormal alveolar process morphology ( J:244583 )

• hypoplasia of the periodontal alveolar bone and enamel

abnormal ameloblast differentiation ( J:244583 )

• loss of polarization

limbs/digits/tail

abnormal limb long bone morphology ( J:244583 )

• severely hypoplastic

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
osteochondrodysplasia		DOID:2256		J:244583