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Phenotypes Associated with This Genotype
Genotype
MGI:5473901
Allelic
Composition
Tg(CAG-Bmpr1a*,-lacZ)1Nobs/0
Tg(Mpz-cre)94Imeg/0
Genetic
Background
involves: 129X1/SvJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
No mouse lines available in IMSR.
See publication links below for author information.
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• about 80% die soon after birth while 20% survive; those surviving do not exhibit cleft but have shorter faces
• about 80% die soon after birth due to facial cleft and cleft palate, however mice without cleft survive

embryo
• mutants show an increase in apoptosis in the developing frontal bone primordial mesenchymal cells at E10.5
• mutants exhibit a reduction in the number of frontal bone primordial cells at E12.5 but no changes in apoptosis or proliferation at this time
• the frontal bone primordial cells form the frontal bone matrix normally and differentiate into the frontal bones at E15.5, but their sizes are smaller
• cell density of the frontonasal mesenchyme is lower than in controls at E10.5 but not at E9.5
• an increase in apoptosis is seen in the frontonasal mesenchyme at E10.5
• however, proliferation is normal in this area

craniofacial
• calvarial ossification defects are seen in 3 week old mice showing calvarial foramina
• 100% of mice exhibit wide-open anterior fontanelles at birth
• newborns show reduced size of the frontal bones in the presence and absence of cleft face and cleft palate
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
• nasal processes are smaller at E10.5
• 77.8% of E11.5 embryos show an abnormally unfused nasal process
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
• surviving mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• 75% of embryos exhibit facial cleft at E13.5 and E15.5 (after completion of upper lip formation)

cardiovascular system
• 50% of mutants with facial cleft exhibit a ventricular septum defect

digestive/alimentary system
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate

integument
• 28.6% of surviving mice without cleft face or cleft palate exhibit a belly spot

behavior/neurological
• midline fusion defects affect suckling but not breathing

pigmentation
• 28.6% of surviving mice without cleft face or cleft palate exhibit a belly spot

respiratory system
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation

vision/eye
• distance between the eyes is 1.1-fold greater in mice at 3 weeks of age than in controls

skeleton
• calvarial ossification defects are seen in 3 week old mice showing calvarial foramina
• 100% of mice exhibit wide-open anterior fontanelles at birth
• newborns show reduced size of the frontal bones in the presence and absence of cleft face and cleft palate
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
• 3 week old mutants show calvarial ossification defects between the frontal bones

growth/size/body
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• mice with cleft face and cleft palate exhibit more severe defects in craniofacial bone formation than those without, showing nasal bone dysplasia and septal cartilage separation
• surviving mice without cleft have a short face, with facial length 0.87-fold shorter than controls at 3 weeks of age
• 83.3% of newborns have midline fusion defects, cleft face and cleft palate
• 75% of embryos exhibit facial cleft at E13.5 and E15.5 (after completion of upper lip formation)
• mutants show an increase in apoptosis in the developing frontal bone primordial mesenchymal cells at E10.5
• mutants exhibit a reduction in the number of frontal bone primordial cells at E12.5 but no changes in apoptosis or proliferation at this time
• the frontal bone primordial cells form the frontal bone matrix normally and differentiate into the frontal bones at E15.5, but their sizes are smaller
• cell density of the frontonasal mesenchyme is lower than in controls at E10.5 but not at E9.5
• an increase in apoptosis is seen in the frontonasal mesenchyme at E10.5
• however, proliferation is normal in this area


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
06/22/2016
MGI 6.04
The Jackson Laboratory