Phenotypes associated with this allele

• Allele Symbol: Nfatc4^tm1Grc
• Allele Name: targeted mutation 1, Gerald R Crabtree
• Allele ID: MGI:2183093
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cx1	Nfatc3^tm1Glm/Nfatc3^tm1Glm Nfatc4^tm1Grc/Nfatc4^tm1Grc	involves: 129S2/SvPas	MGI:3525158
cx2	Nfatc2^tm1Glm/Nfatc2^tm1Glm Nfatc3^tm1Glm/Nfatc3^tm1Glm Nfatc4^tm1Grc/Nfatc4^tm1Grc	involves: 129S2/SvPas	MGI:3525159
cx3	Nfatc2^tm1Glm/Nfatc2^tm1Glm Nfatc4^tm1Grc/Nfatc4^tm1Grc	involves: 129S2/SvPas	MGI:3629728

Genotype
MGI:3525158

cx1

• Allelic Composition: Nfatc3^tm1Glm/Nfatc3^tm1Glm; Nfatc4^tm1Grc/Nfatc4^tm1Grc
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:70266 )

• 98% of homozygotes had died by E11.5

embryo

abnormal placental labyrinth vasculature morphology ( J:109139 )

• decreased vascularization at E10.5

abnormal vitelline vasculature morphology ( J:70266 )

• lack of organized blood vessels in yolk sac at E9.5

cardiovascular system

abnormal blood vessel morphology ( J:70266 )

• vascular disorganization increased from E9.5 to E10.5

• branches of internal carotids failed to form

• association of smooth muscle to endothelium is defective in both arteries and veins

abnormal intersomitic vessel morphology ( J:70266 )

• poorly formed intersomitic vessels

abnormal placental labyrinth vasculature morphology ( J:109139 )

• decreased vascularization at E10.5

abnormal vitelline vasculature morphology ( J:70266 )

• lack of organized blood vessels in yolk sac at E9.5

abnormal heart morphology ( J:84138 )

• 50% reduction in myocardial proliferation

• abnormal mitochondria in ventricular myocardium

trabecula carnea hypoplasia ( J:84138 )

• ventricular trabeculae were thin at E10.5

enlarged heart ( J:84138 )

• defects in cardiac development at E10.5 included dilated, thin translucent hearts, pericardial effusion and anemia

enlarged pericardium ( J:70266 )

• enlarged pericardial sac by E9.5

muscle

trabecula carnea hypoplasia ( J:84138 )

• ventricular trabeculae were thin at E10.5

nervous system

abnormal sensory neuron innervation pattern ( J:83744 )

• defects in sensory axon projections found in 70% of double mutants

digestive/alimentary system

aganglionic megacolon ( J:109139 )

endocrine/exocrine glands

annular pancreas ( J:109139 )

growth/size/body

enlarged heart ( J:84138 )

• defects in cardiac development at E10.5 included dilated, thin translucent hearts, pericardial effusion and anemia

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:109139

Genotype
MGI:3525159

cx2

• Allelic Composition: Nfatc2^tm1Glm/Nfatc2^tm1Glm; Nfatc3^tm1Glm/Nfatc3^tm1Glm; Nfatc4^tm1Grc/Nfatc4^tm1Grc
• Genetic Background: involves: 129S2/SvPas

embryo

decreased embryo size ( J:83744 )

• smaller than stage matched controls

• stages were not delayed

growth/size/body

decreased embryo size ( J:83744 )

• smaller than stage matched controls

• stages were not delayed

nervous system

abnormal sensory neuron innervation pattern ( J:83744 )

• commissural axon growth is disrupted

• defects in sensory axon projections found in 100% of triple mutants

• spinal sensory neurons failed to project longitudinally

abnormal trigeminal nerve morphology ( J:83744 )

• trigeminal axons stunted at E10.5

abnormal spinal cord dorsal column morphology ( J:83744 )

• dorsal funiculus absent or fragmented

behavior/neurological

decreased anxiety-related response ( J:109139 )

decreased grip strength ( J:109139 )

• mutants display decreased grip strength compared to controls

abnormal locomotor activation ( J:109139 )

• mice show increased locomotor activity compared to BALB/c controls

abnormal social/conspecific interaction behavior ( J:109139 )

• mutants show increased social interaction

muscle

hypotonia ( J:109139 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:109139

Genotype
MGI:3629728

cx3

• Allelic Composition: Nfatc2^tm1Glm/Nfatc2^tm1Glm; Nfatc4^tm1Grc/Nfatc4^tm1Grc
• Genetic Background: involves: 129S2/SvPas

behavior/neurological

decreased anxiety-related response ( J:109139 )

decreased grip strength ( J:109139 )

• mutants display decreased grip strength compared to controls

abnormal locomotor activation ( J:109139 )

abnormal social/conspecific interaction behavior ( J:109139 )

• mutants show increased social interaction

craniofacial

abnormal cranium morphology ( J:109139 )

• mice have shortened anterior parts of the skull

abnormal neurocranium morphology ( J:109139 )

• mice have a reduced length between the intersection of the parietal and interparietal bones and the nasale

abnormal zygomatic arch morphology ( J:109139 )

• there is a narrowed gap between the anterior aspects of the zygomatic arches

abnormal mandible morphology ( J:109139 )

• double knockouts have shortened distance between numerous landmarks for measuring mandible morphology

muscle

hypotonia ( J:109139 )

skeleton

abnormal cranium morphology ( J:109139 )

• mice have shortened anterior parts of the skull

abnormal neurocranium morphology ( J:109139 )

• mice have a reduced length between the intersection of the parietal and interparietal bones and the nasale

abnormal zygomatic arch morphology ( J:109139 )

• there is a narrowed gap between the anterior aspects of the zygomatic arches

abnormal mandible morphology ( J:109139 )

• double knockouts have shortened distance between numerous landmarks for measuring mandible morphology

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Down syndrome		DOID:14250	OMIM:190685	J:109139