Analysis Tools
respiratory system
|
• lungs fail to float in water, indicating that pups cannot inflate their lungs with air
• however, lung histology and diaphragm positioning and innervation appear grossly normal
|
mortality/aging
|
• pups are born alive but none survive past approximately 30 min after birth due to an inability to breathe; only a single weanling is recovered that lived to one month of age and is runted
|
growth/size/body
|
• mice are slightly runted during embryogenesis
|
embryo
|
• mice are slightly runted during embryogenesis
|
craniofacial
|
• E18.5 mutants exhibit defects in the craniofacial defects with a reduction in the mesoderm and neural crest-derived bones
|
|
• craniofacial hypoplasia of both mesoderm- and neural crest-derived bones
|
cardiovascular system
|
• E18.5 hearts show thinning of the myocardium
|
|
• E18.5 hearts show ventricular hypertrabeculation
|
hematopoietic system
|
• blood analysis at E18.5 and P0 shows a reduction of red blood cells
• however, white blood cell numbers and mean corpuscular volume are not altered
|
|
• reduction in platelets
|
homeostasis/metabolism
|
• MEFs exhibit greatly reduced forms of methylcobalamin and adenosylcobalamin coenzymes
|
|
• MEFs exhibit a reduction in the functional activity of methionine synthase and methylmalonyl-CoA mutase
|
limbs/digits/tail
kinked tail
(
J:317822
)
|
• approximately 2% of mutants exhibit a kinked tail at E16.5-E18.5
|
muscle
|
• E18.5 hearts show thinning of the myocardium
|
|
• E18.5 hearts show ventricular hypertrabeculation
|
nervous system
|
• expansion of the lateral ventricles
• however, no obvious differences in the neural stem cell, progenitor cell, or postmitotic neuron populations are seen
|
|
• brain shows thinning of the cerebral cortex
|
|
• reduction of astrocyte-specific transcripts in the brain, suggesting a defect in astrogliogenesis
|
exencephaly
(
J:317822
)
|
• exencephaly is seen in 3 of 198 mutants at E16.5-E18.5
|
skeleton
|
• variable penetrance (13.33%) of homeotic transformation is seen at E16.5-E18.5, including an ectopic rib on cervical vertebrae 7 and fusion of cervical vertebrae 2 and 3
|
Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| methylmalonic aciduria and homocystinuria type cblC | DOID:0050715 |
OMIM:277400 |
J:317822 | |
