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Phenotypes Associated with This Genotype
Genotype
MGI:6150914
Allelic
Composition
Rnf146tm1.1Rtpl/Rnf146tm1.1Rtpl
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
Genetic
Background
involves: C57BL/6J * CD-1
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rnf146tm1.1Rtpl mutation (0 available); any Rnf146 mutation (14 available)
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc mutation (1 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mice die shortly after birth due to respiratory distress

skeleton
N
• mice exhibit normal major and minor bone diameter and periosteal and endosteal perimeter
• mice exhibit normal osteoclast number and function
• 40-fold in tibial bone marrow fat stores
• with calvarial hypomineralization
• with calvarial hypomineralization
• hypoplasia of the periodontal alveolar bone and enamel
• loss of polarization
• severely hypoplastic
• severely hypoplastic
• in trabecular bone
• however, trabecular thickness is normal
• calvarial hypomineralization, which is more severe than in Tg(Sp7-tTA,tetO-EGFP/cre)1Amc hemizygous mice
• impaired
• however, chondrocyte differentiation is normal

homeostasis/metabolism
• reduced production
• defective glucose-stimulated insulin secretion
• reduced undercarboxylated osteocalcin serum levels

adipose tissue
• 40-fold in tibial bone marrow fat stores

growth/size/body
• hypoplasia of the periodontal alveolar bone and enamel
• loss of polarization

respiratory system

endocrine/exocrine glands
• reduced production

cellular

craniofacial
• with calvarial hypomineralization
• with calvarial hypomineralization
• hypoplasia of the periodontal alveolar bone and enamel
• loss of polarization

limbs/digits/tail
• severely hypoplastic

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
cleidocranial dysplasia DOID:13994 OMIM:119600
OMIM:216330
J:244583


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB), Gene Ontology (GO)
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last database update
01/19/2021
MGI 6.16
The Jackson Laboratory