Phenotypes associated with this allele

• Allele Symbol: Bmp7^tm1.2Dgra
• Allele Name: targeted mutation 1.2, Daniel Graf
• Allele ID: MGI:3847798
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Bmp7^tm1.2Dgra/Bmp7^tm1.2Dgra	B6.Cg-Bmp7^tm1.2Dgra	MGI:3847923
hm2	Bmp7^tm1.2Dgra/Bmp7^tm1.2Dgra	involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cJ * C57BL/6J * C57BL/6NTac	MGI:3847892

Genotype
MGI:3847923

hm1

• Allelic Composition: Bmp7^tm1.2Dgra/Bmp7^tm1.2Dgra
• Genetic Background: B6.Cg-Bmp7^tm1.2Dgra

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

craniofacial

abnormal craniofacial morphology ( J:148972 )

• ectodermal appendages of the craniofacial structures are abnormal

abnormal cranium morphology ( J:148972 )

• the bones shaping the cranial cavity are disorganized and discontinuous in places unlike in wild-type mice

abnormal basioccipital bone morphology ( J:148972 )

• the formation and ossification of the basioccipital bone is delayed compared to in wild-type mice

abnormal temporal bone petrous part morphology ( J:148972 )

• the cartilage primordium of the petrous part of the temporal bone is disorganized compared to in wild-type mice

abnormal hyoid bone morphology ( J:148972 )

• the development of the cartilage primordium of the hyoid bone is delayed compared to in wild-type mice

abnormal tooth morphology ( J:148972 )

• maxillary teeth are absent

abnormal lower incisor morphology ( J:148972 )

• mandibular incisors are deformed and hypoplastic unlike in wild-type mice

• in 1 of 7 mice only one mandibular incisor is present

absent upper incisors ( J:148972 )

• 4 of 7 mice are missing the maxillary incisors

abnormal molar morphology ( J:148972 )

• in 3 of 7 mice maxillary and mandibular molars are misplaced or missing compared to in wild-type mice

decreased molar number ( J:148972 )

• in 3 of 7 mice maxillary and mandibular molars are misplaced or missing compared to in wild-type mice

growth retardation of molars ( J:148972 )

• development of the maxillary and mandibular first molars is delayed compared to in wild-type mice

abnormal mandible morphology ( J:148972 )

• the mandible is microplastic with porotic appearance unlike in wild-type mice

abnormal maxilla morphology ( J:148972 )

abnormal maxillary shelf morphology ( J:148972 )

abnormal middle ear ossicle morphology ( J:148972 )

• acoustic bones are disrupted compared to in wild-type mice

abnormal craniofacial development ( J:148972 )

• the cartilage primordial of the basisphenoid and basioccipital bones do not fuse and leave a gap at the side of the pituitary gland unlike in wild-type mice

small Meckel's cartilage ( J:148972 )

• small

abnormal nasal capsule morphology ( J:148972 )

• the precartilage primordium of the nasal capsule is deformed compared to in wild-type mice

palatal shelves fail to meet at midline ( J:148972 )

palatal shelf hypoplasia ( J:148972 )

abnormal hard palate morphology ( J:148972 )

• hard palates exhibit growth retardation and the palate shelves stop where the cartilage primordium of the basisphenoid bone forks to the roof and floor shelves

abnormal soft palate morphology ( J:148972 )

• growth retardation

cleft palate ( J:148972 )

abnormal nasal septum cartilage morphology ( J:148972 )

• the cartilage primordium of the nasal septum is delayed compared to in wild-type mice

• however, the nasal septum and primary palate fuse normally

hearing/vestibular/ear

abnormal middle ear ossicle morphology ( J:148972 )

• acoustic bones are disrupted compared to in wild-type mice

abnormal cochlea morphology ( J:148972 )

• enlarged

abnormal semicircular canal morphology ( J:148972 )

• enlarged

respiratory system

abnormal nasal capsule morphology ( J:148972 )

• the precartilage primordium of the nasal capsule is deformed compared to in wild-type mice

abnormal nasal septum cartilage morphology ( J:148972 )

• the cartilage primordium of the nasal septum is delayed compared to in wild-type mice

• however, the nasal septum and primary palate fuse normally

abnormal cricoid cartilage morphology ( J:148972 )

• displaced or absent

absent cricoid cartilage ( J:148972 )

abnormal thyroid cartilage morphology ( J:148972 )

• displaced or absent

absent thyroid cartilage ( J:148972 )

nervous system

exencephaly ( J:148972 )

• in some mice

vision/eye

anophthalmia ( J:148972 )

digestive/alimentary system

palatal shelves fail to meet at midline ( J:148972 )

palatal shelf hypoplasia ( J:148972 )

abnormal hard palate morphology ( J:148972 )

• hard palates exhibit growth retardation and the palate shelves stop where the cartilage primordium of the basisphenoid bone forks to the roof and floor shelves

abnormal maxillary shelf morphology ( J:148972 )

abnormal soft palate morphology ( J:148972 )

• growth retardation

cleft palate ( J:148972 )

skeleton

abnormal cranium morphology ( J:148972 )

• the bones shaping the cranial cavity are disorganized and discontinuous in places unlike in wild-type mice

abnormal basioccipital bone morphology ( J:148972 )

• the formation and ossification of the basioccipital bone is delayed compared to in wild-type mice

abnormal temporal bone petrous part morphology ( J:148972 )

• the cartilage primordium of the petrous part of the temporal bone is disorganized compared to in wild-type mice

small Meckel's cartilage ( J:148972 )

• small

abnormal hyoid bone morphology ( J:148972 )

• the development of the cartilage primordium of the hyoid bone is delayed compared to in wild-type mice

abnormal tooth morphology ( J:148972 )

• maxillary teeth are absent

abnormal lower incisor morphology ( J:148972 )

• mandibular incisors are deformed and hypoplastic unlike in wild-type mice

• in 1 of 7 mice only one mandibular incisor is present

absent upper incisors ( J:148972 )

• 4 of 7 mice are missing the maxillary incisors

abnormal molar morphology ( J:148972 )

• in 3 of 7 mice maxillary and mandibular molars are misplaced or missing compared to in wild-type mice

decreased molar number ( J:148972 )

• in 3 of 7 mice maxillary and mandibular molars are misplaced or missing compared to in wild-type mice

growth retardation of molars ( J:148972 )

• development of the maxillary and mandibular first molars is delayed compared to in wild-type mice

abnormal mandible morphology ( J:148972 )

• the mandible is microplastic with porotic appearance unlike in wild-type mice

abnormal maxilla morphology ( J:148972 )

abnormal maxillary shelf morphology ( J:148972 )

abnormal middle ear ossicle morphology ( J:148972 )

• acoustic bones are disrupted compared to in wild-type mice

abnormal nasal capsule morphology ( J:148972 )

• the precartilage primordium of the nasal capsule is deformed compared to in wild-type mice

abnormal nasal septum cartilage morphology ( J:148972 )

• the cartilage primordium of the nasal septum is delayed compared to in wild-type mice

• however, the nasal septum and primary palate fuse normally

abnormal cricoid cartilage morphology ( J:148972 )

• displaced or absent

absent cricoid cartilage ( J:148972 )

abnormal thyroid cartilage morphology ( J:148972 )

• displaced or absent

absent thyroid cartilage ( J:148972 )

integument

abnormal hair follicle morphology ( J:148972 )

• gaps among the cells of the epidermis and mesenchyme that surrounds the developing follicle of mutant mice

hair follicle outer root sheath hyperplasia ( J:148972 )

• epidermal root sheaths are enlarged

abnormal vibrissa morphology ( J:148972 )

• vibrissa on the upper and lower lip are abnormal

abnormal vibrissa number ( J:148972 )

• decreased

growth/size/body

abnormal tooth morphology ( J:148972 )

• maxillary teeth are absent

abnormal lower incisor morphology ( J:148972 )

• mandibular incisors are deformed and hypoplastic unlike in wild-type mice

• in 1 of 7 mice only one mandibular incisor is present

absent upper incisors ( J:148972 )

• 4 of 7 mice are missing the maxillary incisors

abnormal molar morphology ( J:148972 )

• in 3 of 7 mice maxillary and mandibular molars are misplaced or missing compared to in wild-type mice

decreased molar number ( J:148972 )

• in 3 of 7 mice maxillary and mandibular molars are misplaced or missing compared to in wild-type mice

growth retardation of molars ( J:148972 )

• development of the maxillary and mandibular first molars is delayed compared to in wild-type mice

abnormal nasal capsule morphology ( J:148972 )

• the precartilage primordium of the nasal capsule is deformed compared to in wild-type mice

palatal shelves fail to meet at midline ( J:148972 )

palatal shelf hypoplasia ( J:148972 )

abnormal hard palate morphology ( J:148972 )

• hard palates exhibit growth retardation and the palate shelves stop where the cartilage primordium of the basisphenoid bone forks to the roof and floor shelves

abnormal maxillary shelf morphology ( J:148972 )

abnormal soft palate morphology ( J:148972 )

• growth retardation

cleft palate ( J:148972 )

abnormal nasal septum cartilage morphology ( J:148972 )

• the cartilage primordium of the nasal septum is delayed compared to in wild-type mice

• however, the nasal septum and primary palate fuse normally

Genotype
MGI:3847892

hm2

• Allelic Composition: Bmp7^tm1.2Dgra/Bmp7^tm1.2Dgra
• Genetic Background: involves: 129S4/SvJae * 129S6/SvEvTac * BALB/cJ * C57BL/6J * C57BL/6NTac

mortality/aging

preweaning lethality, complete penetrance ( J:149134 )

• no viable mice are produced (time of death not specified)

vision/eye

retina pigment epithelium atrophy ( J:149134 )

• after E11.0, the eye structures undergo profound deterioration unlike in wild-type mice

• by E18.5, few organized pigmented epithelial cells remain unlike in wild-type eyes

abnormal eye development ( J:149134 )

• after E11.0, the eye structures undergo profound deterioration unlike in wild-type mice

• by E18.5, few organized pigmented epithelial cells remain unlike in wild-type eyes

abnormal lens vesicle development ( J:149134 )

• at E11.0, the lens vesicle exhibits incomplete closure unlike in wild-type mice

microphthalmia ( J:149134 )

anophthalmia ( J:149134 )

renal/urinary system

dilated renal glomerular capsule ( J:149134 )

• at E15.5, mice exhibit dilated cyst-like Bowman's capsules unlike wild-type mice

abnormal renal glomerulus morphology ( J:149134 )

• at E15.5, development of the glomeruli is reduced compared to in wild-type mice

abnormal kidney mesenchyme morphology ( J:149134 )

• at E15.5, kidneys exhibit an accumulation of loose interstitial mesenchyme unlike in wild-type mice

renal hypoplasia ( J:149134 )

skeleton

abnormal sternum morphology ( J:149134 )

rib bifurcation ( J:149134 )

rib fusion ( J:149134 )

embryo

short rostral-caudal axis ( J:149134 )

• the anterior posterior axis is shorter than normal

growth/size/body

decreased fetal size ( J:149134 )

• at E15.5

limbs/digits/tail

polydactyly ( J:149134 )

• on hindlimb at E15.5

pigmentation

retina pigment epithelium atrophy ( J:149134 )

• after E11.0, the eye structures undergo profound deterioration unlike in wild-type mice

• by E18.5, few organized pigmented epithelial cells remain unlike in wild-type eyes