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Phenotypes Associated with This Genotype
Genotype
MGI:6509439
Allelic
Composition
Bmp7tm1.1Dgra/Bmp7tm1.1Dgra
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background
involves: 129S6/SvEvTac * C57BL/6J * C57BL/6NTac * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp7tm1.1Dgra mutation (0 available); any Bmp7 mutation (37 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• starting at around 3 weeks of age, mice show a failure to thrive with variable onset that leads to death, with only 30% of mice surviving past 8 weeks of age

behavior/neurological
• mice show decreased exercise capacity at P30, with mice tiring very quickly in an acute speed test and spending more time on the resting plate

craniofacial
• mice exhibit a more acutely angled cranial base at 4 weeks of age but not at P14 or P21
• mice present with a shorter, more acute-angled cranial base
• lengths of the posterior and anterior frontal complex are reduced
• 4-week old mice exhibit a shorter basispenoid which is not seen at P14 or P21
• however, lengths of basioccipital, presphenoid, and ethmoid bones are not changed
• mice show increased frontal bossing and a change to frontal bossing angle at 1 month of age
• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age
• length, but not width, of the nasal bones is reduced
• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30
• difference in facial length becomes significant at P21 due to reduced facial growth between the 2- and 3-week time points
• nasal airway obstruction
• all mice develop nasal septum deviation by P30, with variable extent, shape, direction and location and degree of deviation
• mice show a more acute-angled snout at 1 month of age
• mice show a midfacial depression of varying degree from about 2 weeks of age and develop midfacial hypoplasia that becomes prominent around P21

growth/size/body
• mice show increased frontal bossing and a change to frontal bossing angle at 1 month of age
• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age
• length, but not width, of the nasal bones is reduced
• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30
• difference in facial length becomes significant at P21 due to reduced facial growth between the 2- and 3-week time points
• nasal airway obstruction
• all mice develop nasal septum deviation by P30, with variable extent, shape, direction and location and degree of deviation
• mice show a more acute-angled snout at 1 month of age
• mice show a midfacial depression of varying degree from about 2 weeks of age and develop midfacial hypoplasia that becomes prominent around P21

homeostasis/metabolism
• mice show decreased exercise capacity at P30, with mice tiring very quickly in an acute speed test and spending more time on the resting plate
• mice with apneas show a lower overall baseline body temperature due to greater body temperature individual variability and lower body temperature during hypoxia
• delta oxygen, the difference in oxygen fraction in the inflow and outflow of the chamber, indicating oxygen consumption, is reduced in mice

respiratory system
• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age
• length, but not width, of the nasal bones is reduced
• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30
• nasal airway obstruction
• all mice develop nasal septum deviation by P30, with variable extent, shape, direction and location and degree of deviation
• short respiratory disruptions following a sigh is reduced, whereas prolonged post-sigh events (more than or two apneas following a sigh) are increased
• majority of respiratory disturbances develop following the development of craniofacial abnormalities
• mice with apneas exhibit a lower baseline respiratory frequency and an increase in cycle duration of each respiratory event due to an increase in the inspiratory time
• plethysmopgraphy shows that 50% of mice elicit a greater number of spontaneous apneas in normoxia
• presence of greater number of spontaneous apneas persists during hypoxia, as well as during the first minute of recovery to normoxia
• however, the presence of greater number of spontaneous apneas disappears during hyperoxia

skeleton
• mice exhibit a more acutely angled cranial base at 4 weeks of age but not at P14 or P21
• mice present with a shorter, more acute-angled cranial base
• lengths of the posterior and anterior frontal complex are reduced
• 4-week old mice exhibit a shorter basispenoid which is not seen at P14 or P21
• however, lengths of basioccipital, presphenoid, and ethmoid bones are not changed
• mice show increased frontal bossing and a change to frontal bossing angle at 1 month of age
• mice show depressed nasal bones and changes to nasal depression angle at 1 month of age
• length, but not width, of the nasal bones is reduced
• turbinate development appears disturbed, with reduced branching and ossification, and slight swelling of turbinate soft tissue bilaterally at P14; swelling and reduced turbinate branching are more noticeable at P30

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
obstructive sleep apnea DOID:0050848 OMIM:107650
J:302309


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
12/10/2024
MGI 6.24
The Jackson Laboratory