Mouse Genome Informatics
hm1
    Pdgfratm2Sor/Pdgfratm2Sor
either: 129S4/SvJaeSor-Pdgfratm2Sor or (involves: 129S4/SvJaeSor * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging
• several homozygotes are dead at E14 while survivors appear distended and hemorrhagic
• most homozygotes die by E16; survivors show extensive bleeding in the head and along the vertebral column which appears enlarged

nervous system
• at E15.5, the mutant neural tube is dorsally thinned and lacks a roof plate
• homozygotes exhibit defects in cranial neural crest cell development
• in thoracic vertebrae, and to a lesser extent in cervical vertebrae, neural arches fail to form a convex structure, resulting in spina bifida
• at E8 and E9, most mutant embryos display a very wavy neural tube
• at E10, >50% of mutant embryos have a very wavy neural tube

embryogenesis
• at E9, a few mutant embryos exhibit defective yolk sac vasculature
• at E8, five of 6 homozygotes have not turned; ~25% and 50% of mutant embryos remain unturned at E9 and E10, respectively
• at E9, 25% of mutant embryos are smaller than wild-type embryos
• at E10, 25% of mutant embryos are very small while another 25% appear normal
• at E11, >50% of mutant embryos appear normal while the remainder are smaller and exhibit a wavy neural tube
• at E15.5, the mutant neural tube is dorsally thinned and lacks a roof plate
• homozygotes exhibit defects in cranial neural crest cell development
• in thoracic vertebrae, and to a lesser extent in cervical vertebrae, neural arches fail to form a convex structure, resulting in spina bifida
• at E8 and E9, most mutant embryos display a very wavy neural tube
• at E10, >50% of mutant embryos have a very wavy neural tube
• at E8, one of 6 homozygotes is severely retarded at the headfold stage

cardiovascular system
• at E9, a few mutant embryos exhibit defective yolk sac vasculature
• at E10, 25% of mutant embryos show pericardial edema
• at E8, 2 of 6 mutant embryos show 2-4 subepidermal blebs flanking the neural tube
• at E9, a few mutant embryos show blood-filled blebs along the neural tube and head
• at E14, surviving mutant embryos display bleeding at various locations
• by E16, survivors exhibit extensive bleeding in the head and along the vertebral column
• despite bleeding, septation in the heart proceeds normally in at least some of E15 survivors

homeostasis/metabolism
• at E12, mutant embryos show blebbing in multiple locations and edema, which increases in severity by E13
• at E10, 25% of mutant embryos show pericardial edema
• at E15.5, mutant embryos exhibit distended, edematous skin

growth/size
• at E12, mutant embryos show a cleft face
• at E9, 25% of mutant embryos are smaller than wild-type embryos
• at E10, 25% of mutant embryos are very small while another 25% appear normal
• at E11, >50% of mutant embryos appear normal while the remainder are smaller and exhibit a wavy neural tube
• at E8, one of 6 homozygotes is severely retarded at the headfold stage
• at E15.5, tissues such as the liver are bulging from the abdominal wall musculature

craniofacial
• at E15, the mutant basisphenoid and temporal bones display retarded ossification
• in contrast, the basioccipital bone and the maxilla appear normal
• at E13-E15, the frontal bone shows incomplete fusion towards the top of the skull
• at E13-E15, the parietal bone shows incomplete fusion towards the top of the skull
• at E13-E15, the nasal bone fails to fuse in the midline
• at E13-E15, the zygomatic bone is absent
• at E12, mutant embryos show a cleft face

skeleton
• at E15, the mutant basisphenoid and temporal bones display retarded ossification
• in contrast, the basioccipital bone and the maxilla appear normal
• at E13-E15, the frontal bone shows incomplete fusion towards the top of the skull
• at E13-E15, the parietal bone shows incomplete fusion towards the top of the skull
• at E13-E15, the nasal bone fails to fuse in the midline
• at E13-E15, the zygomatic bone is absent
• at E15.5, mutant embryos display a poorly developed acromion
• at E15.5, most ribs are attached to sternal bands; however, mutant sternal bands are shorter, highly abnormal and fail to fuse
• at E15.5, almost all homozygotes display asymmetric rib bifurcations of a variable extent; first evident at E13
• at E15.5, almost all homozygotes display asymmetric rib fusions of a variable extent; first evident at E1
• at E15.5, mutant thoracic vertebrae show absence of flexure
• sacral and caudal vertebrae are slightly retarded in development but otherwise normal
• at E15.5, mutant embryos display severe arching of the spinal column
• at E15.5, mutant cervical vertebrae show extensive structural changes and anterior-posterior fusions of the arches, involving up to 4 cervical vertebrae in some cases
• in addition, the apposition of vertebrae at the level of the vertebral bodies is abnormal and bilaterally asymmetric

muscle
• at E10.5, mutant embryos show disorganized myotomal development, esp. at the level of more rostral somites
• at E10.5, mutant myotomes at the level of 15-20 most rostral somites are elongated instead of round, and missing or fused with adjacent myotomes
• in contrast, myotomal morphology appears normal in caudal somites

cellular
• at E10, mutant embryos show increased apoptosis in the somites, cephalic region and branchial arches i.e. on pathways followed by migrating cranial NCCs

pigmentation
N
• at E10-E13, homozygotes display no pigmentation defects with normal melanocyte migration/number around the ear and tail (J:41814)

integument
• at E15.5, mutant embryos exhibit distended, edematous skin
• at E15.5, mutant embryos show a very thin epidermal layer, that is separated from any dermal layer when blebbed
• at E12, mutant embryos show large blebs on their heads accompanied by bleeding


Mouse Genome Informatics
hm2
    Pdgfratm2Sor/Pdgfratm2Sor
involves: 129S4/SvJaeSor * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
mortality/aging

muscle
• at E12, some surviving mice exhibit little to no diaphragm formation unlike wild-type mice
• at E12, some surviving mice exhibit delayed closure of bilateral posterior pleuroperitoneal folds unlike wild-type mice
• 2 of 7 mice exhibit open posterior pleuroperitoneal folds with variable herniation of the stomach into the thorax unlike wild-type mice

respiratory system

cardiovascular system

Mouse Models of Human Disease
OMIM IDRef(s)
Diaphragmatic Hernia, Congenital 142340 J:160875


Mouse Genome Informatics
ht3
    Pdgfratm2Sor/Pdgfra+
either: 129S4/SvJaeSor-Pdgfratm2Sor or (involves: 129S4/SvJaeSor * C57BL/6J)
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
pigmentation
N
• heterozygotes display absence of a pigmentation defect, indicating normal melanocyte migration (J:41814)


Mouse Genome Informatics
cx4
    Myo1eGt(ROSA)74Sor/Myo1eGt(ROSA)74Sor
Pdgfratm2Sor/Pdgfra+

involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
hematopoietic system
• anemia is less severe than in Myo1eGt(ROSA)74Sor homozygotes


Mouse Genome Informatics
cx5
    Arid5bGt(ROSA)75Sor/Arid5bGt(ROSA)75Sor
Pdgfratm2Sor/Pdgfra+

involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• distance between the frontal bones is increased compared with Arid5bGt(ROSA)75Sor homozygotes and often accompanied by outgrowth of the interfrontal bone
• reduced or completely cleft palates are present in all mice
• shorter and wider than in Arid5bGt(ROSA)75Sor homozygotes

skeleton
• skeletal defects are more severe than in Arid5bGt(ROSA)75Sor homozygotes
• distance between the frontal bones is increased compared with Arid5bGt(ROSA)75Sor homozygotes and often accompanied by outgrowth of the interfrontal bone

digestive/alimentary system
• reduced or completely cleft palates are present in all mice

growth/size
• reduced or completely cleft palates are present in all mice
• shorter and wider than in Arid5bGt(ROSA)75Sor homozygotes


Mouse Genome Informatics
cx6
    Pdgfratm2Sor/Pdgfra+
TiparpGt(ROSA)79Sor/TiparpGt(ROSA)79Sor

involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• distance between the frontal bones is increased compared with Tiparp homozygotes and often accompanied by outgrowth of the interfrontal bone
• shorter and wider than in Tiparp homozygotes

skeleton
• skeletal defects are more severe than in TiparpGt(ROSA)79Sor homozygotes
• distance between the frontal bones is increased compared with Tiparp homozygotes and often accompanied by outgrowth of the interfrontal bone

growth/size
• shorter and wider than in Tiparp homozygotes


Mouse Genome Informatics
cx7
    5830428H23RikGt(ROSA)76Sor/5830428H23RikGt(ROSA)76Sor
Pdgfratm2Sor/Pdgfra+

involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• skeletal defects are more severe than in 5830428H23Rik Gt(ROSA)76Sor homozygotes
• distance between the frontal bones is increased compared with 5830428H23RikGt(ROSA)76Sor homozygotes and often accompanied by outgrowth of the interfrontal bone

craniofacial
• distance between the frontal bones is increased compared with 5830428H23RikGt(ROSA)76Sor homozygotes and often accompanied by outgrowth of the interfrontal bone


Mouse Genome Informatics
cx8
    2610005L07RikGt(ROSA)73Sor/2610005L07RikGt(ROSA)73Sor
Pdgfratm2Sor/Pdgfra+

involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
skeleton
• skeletal defects are more severe than in 2610005L07RikGt(ROSA)73Sor homozygotes
• distance between the frontal bones is increased compared with 2610005L07RikGt(ROSA)73Sor homozygotes and often accompanied by outgrowth of the interfrontal bone

craniofacial
• distance between the frontal bones is increased compared with 2610005L07RikGt(ROSA)73Sor homozygotes and often accompanied by outgrowth of the interfrontal bone
• shorter and wider than in 2610005L07RikGt(ROSA)73Sor homozygotes

growth/size
• shorter and wider than in 2610005L07RikGt(ROSA)73Sor homozygotes


Mouse Genome Informatics
cx9
    Pdgfratm2Sor/Pdgfra+
Plekha1Gt(ROSA)82Sor/Plekha1Gt(ROSA)82Sor

involves: 129S4/SvJaeSor
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
craniofacial
• distance between the frontal bones is increased compared with Plekha1Gt(ROSA)82Sor homozygotes and often accompanied by outgrowth of the interfrontal bone
• reduced or completely cleft palates are present in all mice
• shorter and wider than in Plekha1Gt(ROSA)82Sor homozygotes
• 2 of 7 mice have clefts that extend through the cartilaginous nasal capsule, palate and frontal bones

digestive/alimentary system
• reduced or completely cleft palates are present in all mice

skeleton
• distance between the frontal bones is increased compared with Plekha1Gt(ROSA)82Sor homozygotes and often accompanied by outgrowth of the interfrontal bone

growth/size
• reduced or completely cleft palates are present in all mice
• shorter and wider than in Plekha1Gt(ROSA)82Sor homozygotes
• 2 of 7 mice have clefts that extend through the cartilaginous nasal capsule, palate and frontal bones