Phenotypes Associated with This Genotype

Genotype
MGI:6860682

• Allelic Composition: Thap11^em1Poche/Thap11^em1Poche
• Genetic Background: C57BL/6J-Thap11^em1Poche

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

respiratory system

respiratory failure ( J:317822 )

• 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

neonatal lethality, complete penetrance ( J:317822 )

• 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

decreased embryo size ( J:317822 )

• mice are slightly runted during embryogenesis

embryo

decreased embryo size ( J:317822 )

• mice are slightly runted during embryogenesis

craniofacial

abnormal craniofacial morphology ( J:317822 )

• E18.5 mutants exhibit defects in the craniofacial defects with a reduction in the mesoderm and neural crest-derived bones

abnormal craniofacial development ( J:317822 )

• craniofacial hypoplasia of both mesoderm- and neural crest-derived bones

cardiovascular system

abnormal ventricle myocardium morphology ( J:317822 )

• E18.5 hearts show thinning of the myocardium

abnormal trabecula carnea morphology ( J:317822 )

• E18.5 hearts show ventricular hypertrabeculation

hematopoietic system

decreased erythrocyte cell number ( J:317822 )

• 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

decreased hematocrit ( J:317822 )

decreased hemoglobin content ( J:317822 )

thrombocytopenia ( J:317822 )

• reduction in platelets

homeostasis/metabolism

cyanosis ( J:317822 )

• pups are cyanotic

abnormal enzyme/coenzyme level ( J:317822 )

• MEFs exhibit greatly reduced forms of methylcobalamin and adenosylcobalamin coenzymes

abnormal enzyme/coenzyme activity ( J:317822 )

• 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

abnormal ventricle myocardium morphology ( J:317822 )

• E18.5 hearts show thinning of the myocardium

abnormal trabecula carnea morphology ( J:317822 )

• E18.5 hearts show ventricular hypertrabeculation

nervous system

enlarged lateral ventricles ( J:317822 )

• expansion of the lateral ventricles

• however, no obvious differences in the neural stem cell, progenitor cell, or postmitotic neuron populations are seen

thin cerebral cortex ( J:317822 )

• brain shows thinning of the cerebral cortex

abnormal astrocyte morphology ( J:317822 )

• 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

vertebral transformation ( J:317822 )

• 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