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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Bmp2tm1Jfm
targeted mutation 1, James F Martin
MGI:3583785
Summary 16 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Bmp2tm1Jfm/Bmp2tm1Jfm involves: 129S4/SvJaeSor MGI:3620970
ht2
 		Bmp2tm1Jfm/Bmp2tm1.1Jfm involves: 129S4/SvJaeSor MGI:3620973
cn3
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J MGI:7367250
cn4
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Mef2c-cre)2Blk/0 		involves: 129S4/SvJaeSor MGI:4941214
cn5
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Nkx2-5tm1(cre)Rjs/Nkx2-5+ 		involves: 129S4/SvJaeSor MGI:3620974
cn6
 		Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312866
cn7
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312868
cn8
 		Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4+
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312869
cn9
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4+
Bmp7tm1Jfm/Bmp7+
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312870
cn10
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312864
cn11
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4+
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312873
cn12
 		Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312874
cn13
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7+
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312875
cn14
 		Bmp2tm1Jfm/Bmp2tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:7367239
cn15
 		Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7+
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312871
cn16
 		Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4+
H2az2Tg(Wnt1-cre)11Rth/H2az2+ 		involves: 129S4/SvJaeSor * C57BL/6J * CBA/J MGI:5312865


Genotype
MGI:3620970
hm1
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Genetic
Background		 involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:99582 )
• homozygotes are viable and fertile with no discernible phenotypes




Genotype
MGI:3620973
ht2
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1.1Jfm
Genetic
Background		 involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1.1Jfm mutation (0 available); any Bmp2 mutation (27 available)
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
normal phenotype
no abnormal phenotype detected ( J:99582 )
• compound heterozygous mutant mice are viable, fertile and phenotypically normal




Genotype
MGI:7367250
cn3
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJaeSor * 129X1/SvJ * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Gt(ROSA)26Sortm4(ACTB-tdTomato,-EGFP)Luo mutation (10 available); any Gt(ROSA)26Sor mutation (993 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
craniofacial phenotype ( J:274818 )
N
• the size of the first branchial arch is normal at E10.5

embryo
embryo phenotype ( J:274818 )
N
• the size of the first branchial arch is normal at E10.5




Genotype
MGI:4941214
cn4
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
Tg(Mef2c-cre)2Blk/0
Genetic
Background		 involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Tg(Mef2c-cre)2Blk mutation (1 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging

cardiovascular system
abnormal heart ventricle outflow tract morphology ( J:169047 )
• dramatic reduction in the amount of sarcomeric myosin

homeostasis/metabolism




Genotype
MGI:3620974
cn5
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Nkx2-5tm1(cre)Rjs/Nkx2-5+
Genetic
Background		 involves: 129S4/SvJaeSor
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Nkx2-5tm1(cre)Rjs mutation (1 available); any Nkx2-5 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
embryonic lethality during organogenesis, complete penetrance ( J:104417 )
• although present at the expected Mendelian frequency at E9.5, all mutant embryos exhibit heart failure at E10.5

cardiovascular system
abnormal myocardium layer morphology ( J:104417 )
• by E10.5, mutant embryos exhibit a severely compromised myocardium
abnormal cardiac epithelial to mesenchymal transition ( J:104417 )
• at E9.5, all mutant embryos, including those with cardiac jelly deposition, fail to undergo epithelial to mesenchymal transition (EMT) in the forming AV endocardial cushions
abnormal cardiac jelly morphology ( J:104417 )
• at E9.5, 43% of mutants fail to expand the space between the myocardium and the endocardium, indicating defective cardiac jelly formation
abnormal fetal atrioventricular canal morphology ( J:104417 )
• at E9.5, mutant embryos display abnormal AV canal constriction
pericardial effusion ( J:104417 )
• by E10.5, all mutant embryos exhibit pericardial effusion

growth/size/body
embryonic growth retardation ( J:104417 )
• by E10.5, all mutant embryos appear growth retarded

embryo
embryonic growth retardation ( J:104417 )
• by E10.5, all mutant embryos appear growth retarded

homeostasis/metabolism
pericardial effusion ( J:104417 )
• by E10.5, all mutant embryos exhibit pericardial effusion

muscle
abnormal myocardium layer morphology ( J:104417 )
• by E10.5, mutant embryos exhibit a severely compromised myocardium




Genotype
MGI:5312866
cn6
Allelic
Composition		 Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial

skeleton




Genotype
MGI:5312868
cn7
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Bmp7tm1Jfm 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
craniofacial
abnormal craniofacial bone morphology ( J:181229 )
• drastic reduction in most cranial neural crest derived bones
large anterior fontanelle ( J:181229 )
• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal interparietal bone morphology ( J:181229 )
• pieces of the interparietal bone are absent
abnormal mandible morphology ( J:181229 )
• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent

hearing/vestibular/ear

skeleton
abnormal craniofacial bone morphology ( J:181229 )
• drastic reduction in most cranial neural crest derived bones
large anterior fontanelle ( J:181229 )
• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal interparietal bone morphology ( J:181229 )
• pieces of the interparietal bone are absent
abnormal mandible morphology ( J:181229 )
• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent

digestive/alimentary system

growth/size/body
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent
cleft palate ( J:181229 )

respiratory system
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent




Genotype
MGI:5312869
cn8
Allelic
Composition		 Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4+
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Bmp7tm1Jfm 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
craniofacial

hearing/vestibular/ear

digestive/alimentary system

skeleton

growth/size/body
cleft palate ( J:181229 )




Genotype
MGI:5312870
cn9
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4+
Bmp7tm1Jfm/Bmp7+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Bmp7tm1Jfm 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
craniofacial

digestive/alimentary system

skeleton

growth/size/body
small nasal bone ( J:181229 )
cleft palate ( J:181229 )

respiratory system




Genotype
MGI:5312864
cn10
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial
abnormal craniofacial bone morphology ( J:181229 )
• drastic reduction in most cranial neural crest derived bones
large anterior fontanelle ( J:181229 )
• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal interparietal bone morphology ( J:181229 )
• pieces of the interparietal bone are absent
abnormal temporal bone squamous part morphology ( J:181229 )
• pieces of the squamosal bone are absent
abnormal mandible morphology ( J:181229 )
• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal mandibular condyloid process morphology ( J:181229 )
• pieces of the condyloid process are absent
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent

hearing/vestibular/ear

skeleton
abnormal craniofacial bone morphology ( J:181229 )
• drastic reduction in most cranial neural crest derived bones
large anterior fontanelle ( J:181229 )
• enlarged frontal fontanelle at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal interparietal bone morphology ( J:181229 )
• pieces of the interparietal bone are absent
abnormal temporal bone squamous part morphology ( J:181229 )
• pieces of the squamosal bone are absent
abnormal mandible morphology ( J:181229 )
• mandibular defects at E18.5
• phenotype is more severe than in conditional null mice wild-type for Bmp2
abnormal mandibular condyloid process morphology ( J:181229 )
• pieces of the condyloid process are absent
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent

digestive/alimentary system

growth/size/body
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent
cleft palate ( J:181229 )

respiratory system
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent




Genotype
MGI:5312873
cn11
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4+
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Bmp7tm1Jfm 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
craniofacial

hearing/vestibular/ear

digestive/alimentary system

skeleton

growth/size/body
small nasal bone ( J:181229 )
cleft palate ( J:181229 )

respiratory system




Genotype
MGI:5312874
cn12
Allelic
Composition		 Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Bmp7tm1Jfm 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
craniofacial

hearing/vestibular/ear

digestive/alimentary system

skeleton

growth/size/body
small nasal bone ( J:181229 )
cleft palate ( J:181229 )

respiratory system




Genotype
MGI:5312875
cn13
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Bmp7tm1Jfm 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
craniofacial
abnormal interparietal bone morphology ( J:181229 )
• pieces of the interparietal bone are absent
abnormal mandibular condyloid process morphology ( J:181229 )
• pieces of the condyloid process are absent
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent

hearing/vestibular/ear

skeleton
abnormal interparietal bone morphology ( J:181229 )
• pieces of the interparietal bone are absent
abnormal mandibular condyloid process morphology ( J:181229 )
• pieces of the condyloid process are absent
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent

digestive/alimentary system

growth/size/body
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent
cleft palate ( J:181229 )

respiratory system
abnormal nasal bone morphology ( J:181229 )
• pieces of the nasal bone are absent




Genotype
MGI:7367239
cn14
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 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
perinatal lethality, complete penetrance ( J:274818 )
• mice die at birth as a result of a severe cleft palate defect

craniofacial
craniofacial phenotype ( J:274818 )
N
• neural crest-derived cell migration, cell proliferation and apoptosis of palatal mesenchyme is unaffected
abnormal craniofacial morphology ( J:274818 )
• newborns exhibit multiple craniofacial malformations typical of Pierre Robin sequence in humans
abnormal craniofacial bone morphology ( J:274818 )
• severe defects with a significantly reduced size of craniofacial bones, including a ~40% reduction in zygomatic volume
small Meckel's cartilage ( J:274818 )
• Meckels cartilage is significantly smaller in size
abnormal temporal bone zygomatic process morphology ( J:274818 )
• smaller zygomatic process of squamous bone
abnormal jaw morphology ( J:274818 )
• maxillomandibular hypoplasia
absent mandibular coronoid process ( J:274818 )
• coronoid process of the mandibular bone is missing
small mandible ( J:274818 )
• smaller and shorter jaw
• further analysis showed significant reduction in cell proliferation and differentiation of osteogenic progenitors in the mandible, contributing to micrognathia
short mandible ( J:274818 )
• ~10% reduction in mandibular bone length
abnormal maxillary zygomatic process morphology ( J:274818 )
• smaller zygomatic process of the maxilla
failure of palatal shelf elevation ( J:274818 )
• failed elevation of palatal shelves at E14.5
• palate shelves remain in the vertical position at E16.5
• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5
• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue
complete cleft palate ( J:274818 )
• newborns exhibit complete cleft palate due to failed palatal shelf elevation
abnormal tongue position ( J:274818 )
• at E14.5, tongue position is significantly higher along the anterior-posterior axis
• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning

skeleton
abnormal craniofacial bone morphology ( J:274818 )
• severe defects with a significantly reduced size of craniofacial bones, including a ~40% reduction in zygomatic volume
small Meckel's cartilage ( J:274818 )
• Meckels cartilage is significantly smaller in size
abnormal temporal bone zygomatic process morphology ( J:274818 )
• smaller zygomatic process of squamous bone
abnormal jaw morphology ( J:274818 )
• maxillomandibular hypoplasia
absent mandibular coronoid process ( J:274818 )
• coronoid process of the mandibular bone is missing
small mandible ( J:274818 )
• smaller and shorter jaw
• further analysis showed significant reduction in cell proliferation and differentiation of osteogenic progenitors in the mandible, contributing to micrognathia
short mandible ( J:274818 )
• ~10% reduction in mandibular bone length
abnormal maxillary zygomatic process morphology ( J:274818 )
• smaller zygomatic process of the maxilla

digestive/alimentary system
failure of palatal shelf elevation ( J:274818 )
• failed elevation of palatal shelves at E14.5
• palate shelves remain in the vertical position at E16.5
• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5
• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue
complete cleft palate ( J:274818 )
• newborns exhibit complete cleft palate due to failed palatal shelf elevation
abnormal tongue position ( J:274818 )
• at E14.5, tongue position is significantly higher along the anterior-posterior axis
• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning

growth/size/body
abnormal maxillary shelf morphology ( J:274818 )
failure of palatal shelf elevation ( J:274818 )
• failed elevation of palatal shelves at E14.5
• palate shelves remain in the vertical position at E16.5
• however, no differences in cell proliferation or apoptosis are observed in the developing palatal shelves at E13.5
• in vitro, palatal shelves are able to elevate after 24 h in roller culture (when the mandible is removed) and to fuse after 72 h in organ culture, indicating that failed palatal shelf elevation is due to steric hindrance by the undescended tongue
complete cleft palate ( J:274818 )
• newborns exhibit complete cleft palate due to failed palatal shelf elevation
abnormal tongue position ( J:274818 )
• at E14.5, tongue position is significantly higher along the anterior-posterior axis
• however, tongue volume is not significantly altered at E13.5 and E14.5, and elevated tongue is not a consequence of increased cell proliferation or abnormal muscle patterning
abnormal head shape ( J:274818 )




Genotype
MGI:5312871
cn15
Allelic
Composition		 Bmp2tm1Jfm/Bmp2+
Bmp4tm1Jfm/Bmp4tm1Jfm
Bmp7tm1Jfm/Bmp7+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
Bmp7tm1Jfm 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
craniofacial

hearing/vestibular/ear

digestive/alimentary system

skeleton

growth/size/body
small nasal bone ( J:181229 )
cleft palate ( J:181229 )

respiratory system




Genotype
MGI:5312865
cn16
Allelic
Composition		 Bmp2tm1Jfm/Bmp2tm1Jfm
Bmp4tm1Jfm/Bmp4+
H2az2Tg(Wnt1-cre)11Rth/H2az2+
Genetic
Background		 involves: 129S4/SvJaeSor * C57BL/6J * CBA/J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmp2tm1Jfm mutation (1 available); any Bmp2 mutation (27 available)
Bmp4tm1Jfm mutation (1 available); any Bmp4 mutation (23 available)
H2az2Tg(Wnt1-cre)11Rth mutation (2 available); any H2az2 mutation (26 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
craniofacial

digestive/alimentary system

skeleton

growth/size/body
small nasal bone ( J:181229 )
cleft palate ( J:181229 )

respiratory system




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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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory