Analysis Tools
cellular
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• reduced number but normal motility and fertilization capability
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skeleton
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• absence of P2
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• reduced longitudinal axis
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large orbits
(
J:134490
)
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• increased intra-orbital width
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• resulting from reduced length of the anterior region from the infradentale to the menton landmarks
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rib fusion
(
J:134490
)
|
• present at E18.5 in association with misshapen thoracic vertebrae
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• shortened at E18.5
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• deformities and titling are seen at E14.5
• hypoplastic and irregularly stacked at E14.5
• smaller and titled at E18.5
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• presence of hemivertebrae results in tail kinks
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• seen in about 5% of mice
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• misshapen in about 20% of mice at E18.5
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• at 3 weeks of age a 52% reduction in trabecular bone volume is seen in the femur
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• at 3 weeks of age a a 57% decrease in the number of trabeculae is seen in the femur
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• hypoplastic with reduction in the size of all anlagens at E14.5
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• reduced number of cells in chondrogenic condensations at E13; however cell density appears unaffected
• onset of developmental hallmarks (hypertrophy, vascularization) is delayed
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• mineral apposition rate is lower but mineralizing surface per bone surface is increased resulting in an increased calculated bone formation rate
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• delayed ossification of the metacarpals, metatarsals, and phalanges at E18.5
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limbs/digits/tail
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• stylopod and zeugopod bones are 12-19% shorter than in controls at weaning but this difference decreases with age
|
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• 5% display bifid digit I on the right hind paw
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• absence of P2
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• on fore and hind paws
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• reduced size of cartilage condensations at E14.5
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• impaired segmentation of the digital rays at E14.5 but otherwise patterning is normal
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• presence of hemivertebrae results in tail kinks
|
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• seen in about 5% of mice
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kinked tail
(
J:134490
)
|
• 25% have one or more tail kinks
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growth/size/body
short snout
(
J:134490
)
|
• increased relative to body weight
|
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• detectable before weaning
|
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• decrease in length but not in width
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adipose tissue
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• decreased fat mass
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homeostasis/metabolism
| N |
• despite changes in body mass, no significant differences in metabolic parameters or glucose or insulin tolerances are detected
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reproductive system
|
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• reduced number but normal motility and fertilization capability
|
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• in early puberty the density of tubules is decreased and only a single basal cell layer is present within the tubules
• these abnormalities are partially resolved in adults
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• in early puberty
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• at 2 months of age
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• in trial matings to CD-1 females the pregnancy rate is 4% compared to 15% for heterozygous controls
• however, female fertility is normal
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vision/eye
large orbits
(
J:134490
)
|
• increased intra-orbital width
|
craniofacial
large orbits
(
J:134490
)
|
• increased intra-orbital width
|
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• resulting from reduced length of the anterior region from the infradentale to the menton landmarks
|
short snout
(
J:134490
)
endocrine/exocrine glands
|
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• in early puberty the density of tubules is decreased and only a single basal cell layer is present within the tubules
• these abnormalities are partially resolved in adults
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• in early puberty
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• at 2 months of age
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respiratory system
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| autosomal recessive Robinow syndrome | DOID:0060764 |
OMIM:268310 |
J:134490 | |
