Analysis Tools
mortality/aging
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• newborn mice die within 6 hours of birth
(J:60125)
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cardiovascular system
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• complete transposition of the great arteries
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• defects of the membranous portion of the cardiac ventricular septum were found in all mutant pups examined
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growth/size/body
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• nasal capsule is truncated and thickened, usually only on one side of the embryo
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• due to impaired fusion of palatine bones
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• palatal shelves form but do not elevate
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• after E12.5 embryos (and newborns) are 80-90% normal size
(J:60125)
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embryo
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• after E12.5 embryos (and newborns) are 80-90% normal size
(J:60125)
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• presomitic mesoderm is smaller and somite epithelialization is perturbed
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• somites have an irregular cone-like shape at E13.5
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• somites are reduced in the antero-posterior dimension at E13.5
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• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5
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skeleton
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• an ectopic cartilage is present at the skull, extending out from the anterolateral process of the ala temporalis
• the ectopic cartilage is fused with the tegmen tympani of the otic capsule above the incus and malleus bones of the middle ear of the ala temporalis
• the trabecular basal plate is shortened, reducing the size of the fenestra sphenoparietalis on each side
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• skull is broadened at E14.5 and E16.5
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• at E18.5, the angle between the angular process and the condylar process of the jaw point are disrupted and the two processes lie over each other
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• ossification of maxilla is delayed
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• defective ear ossicles
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• the caudal part of the malleus forms but is cut off from the main body
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• shortening of the long bones of the appendicular skeleton
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short radius
(
J:88955
)
short ulna
(
J:88955
)
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• short ulna
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• metacarpals appear shortened and thickened
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rib fusion
(
J:60125
)
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• fusion of adjacent ribs seen frequently
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• severe vertebral malformations of the cervical and thoracic spine consisting of fused and split vertebrae and an irregular rib pattern
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• sacral vertebrae are smaller, tilted, and partially fused with compressed or occasionally missing intervertebral discs
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• formation and ossification of vertebrae was abnormal
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• Meckel's cartilage is truncated at E14.5
• the rostral process of Meckel's cartilage fails to form at the distal tip, the tip is thickened and points downward
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• Meckel's cartilage is truncated at E14.5
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• nasal capsule is truncated and thickened, usually only on one side of the embryo
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• shortened longitudinal columns of proliferative chondrocytes
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• in the humerus, columnar zone is reduced and chondrocytes have an oval shape rather than a flat shape
• in the ulna, chondrocytes have a round shape, remain immature, and no columns are established at E15.5
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• in the humerus, fewer and small hypertrophic chondrocytes are formed, resulting in a reduced hypertrophic zone
• in the ulna, no hypertrophic chondrocytes are seen at E15.5
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• reduced numbers of small flattened chondrocytes
(J:60125)
• delay in chondrocyte differentiation at E15.5
(J:88955)
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• ossification is delayed in the zeugopod and maxilla
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craniofacial
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• an ectopic cartilage is present at the skull, extending out from the anterolateral process of the ala temporalis
• the ectopic cartilage is fused with the tegmen tympani of the otic capsule above the incus and malleus bones of the middle ear of the ala temporalis
• the trabecular basal plate is shortened, reducing the size of the fenestra sphenoparietalis on each side
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• skull is broadened at E14.5 and E16.5
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• at E18.5, the angle between the angular process and the condylar process of the jaw point are disrupted and the two processes lie over each other
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• ossification of maxilla is delayed
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• defective ear ossicles
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• the caudal part of the malleus forms but is cut off from the main body
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• mice exhibit a craniofacial outgrowth defect
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• Meckel's cartilage is truncated at E14.5
• the rostral process of Meckel's cartilage fails to form at the distal tip, the tip is thickened and points downward
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• Meckel's cartilage is truncated at E14.5
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• nasal capsule is truncated and thickened, usually only on one side of the embryo
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• due to impaired fusion of palatine bones
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• palatal shelves form but do not elevate
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homeostasis/metabolism
limbs/digits/tail
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• size of tail bud is reduced to about half the size of wild-type at E9.5-10.5
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• autopod is only slightly reduced
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brachydactyly
(
J:88955
)
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• digits have a shortened and thickened appearance
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polydactyly
(
J:88955
)
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• duplicated first digit on the right hind limb in about 20% of homozygotes
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• stylopod is only slightly reduced, leading to mesomelic shortening of the limb
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• shortened by about 50% and exhibits a considerable delay of ossification
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short radius
(
J:88955
)
short ulna
(
J:88955
)
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• short ulna
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• stylopod is only slightly reduced, leading to mesomelic shortening of the limb
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• shortened by about 50% and exhibits a considerable delay of ossification
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• metacarpals appear shortened and thickened
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short tail
(
J:88955
)
respiratory system
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• nasal capsule is truncated and thickened, usually only on one side of the embryo
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• alveoli of lungs never completely expand
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• newborn mice exhibit forced respiration
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hearing/vestibular/ear
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• defective ear ossicles
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• the caudal part of the malleus forms but is cut off from the main body
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• an ectopic cartilage is fused with the tegmen tympani of the otic capsule above the incus and malleus bones of the middle ear of the ala temporalis
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reproductive system
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• at E11.5 and E12.5
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• skewed distribution at E11.5
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• genital tubercle at E13.5 shows that the tip has reached only half the size of the controls
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digestive/alimentary system
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• due to impaired fusion of palatine bones
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• palatal shelves form but do not elevate
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cellular
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• at E11.5 and E12.5
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• skewed distribution at E11.5
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vision/eye
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive Robinow syndrome | DOID:0060764 |
OMIM:268310 |
J:88955 | |
