Phenotypes associated with this allele

• Allele Symbol: Nfatc2^tm1Glm
• Allele Name: targeted mutation 1, Laurie H Glimcher
• Allele ID: MGI:2182740
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nfatc2^tm1Glm/Nfatc2^tm1Glm	Not Specified	MGI:3700972
cn2	Nfatc2^tm1Glm/Nfatc2^tm1Glm Nfatc3^tm1c(EUCOMM)Hmgu/Nfatc3^tm1c(EUCOMM)Hmgu Tg(Itgax-cre)1-1Reiz/0	involves: C57BL/6 * C57BL/6N * CBA	MGI:7623788
cx3	Nfatc2^tm1Glm/Nfatc2^tm1Glm Nfatc3^tm1Glm/Nfatc3^tm1Glm	involves: 129S2/SvPas	MGI:3525157
cx4	Nfatc2^tm1Glm/Nfatc2^tm1Glm Nfatc3^tm1Glm/Nfatc3^tm1Glm Nfatc4^tm1Grc/Nfatc4^tm1Grc	involves: 129S2/SvPas	MGI:3525159
cx5	Nfatc2^tm1Glm/Nfatc2^tm1Glm Nfatc4^tm1Grc/Nfatc4^tm1Grc	involves: 129S2/SvPas	MGI:3629728

Genotype
MGI:3700972

hm1

• Allelic Composition: Nfatc2^tm1Glm/Nfatc2^tm1Glm
• Genetic Background: Not Specified

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

craniofacial

craniofacial phenotype ( J:118753 )

N • osteoclastogenesis occurs normally; osteoclast numbers are normal

Genotype
MGI:7623788

cn2

• Allelic Composition: Nfatc2^tm1Glm/Nfatc2^tm1Glm; Nfatc3^{tm1c(EUCOMM)Hmgu}/Nfatc3^{tm1c(EUCOMM)Hmgu}; Tg(Itgax-cre)1-1Reiz/0
• Genetic Background: involves: C57BL/6 * C57BL/6N * CBA

immune system

decreased interleukin-2 secretion ( J:346703 )

• significantly reduced BPI induced secretion by bone marrow derived cells

Genotype
MGI:3525157

cx3

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

growth/size/body

postnatal growth retardation ( J:51339 )

• modest

enlarged spleen ( J:51339 )

• massive splenomegaly by 7 weeks of age

• normal architecture is disrupted

• increased numbers of mast cells and eosinophiles

• spontaneous proliferation of splenocytes

hematopoietic system

enlarged spleen ( J:51339 )

• massive splenomegaly by 7 weeks of age

• normal architecture is disrupted

• increased numbers of mast cells and eosinophiles

• spontaneous proliferation of splenocytes

abnormal lymphocyte cell number ( J:51339 )

increased B cell number ( J:51339 )

• increased percentage of B220+ cells in lymph nodes

decreased T cell number ( J:51339 )

• decreased numbers of CD3+ T cells in lymph nodes

• decreased ratio of double positive T cells in lymph nodes

increased T cell number ( J:51339 )

• increased percentage of memory activated T cells in periphery

• increased proportion of double positive T cells in spleen

immune system

enlarged spleen ( J:51339 )

• massive splenomegaly by 7 weeks of age

• normal architecture is disrupted

• increased numbers of mast cells and eosinophiles

• spontaneous proliferation of splenocytes

abnormal lymphocyte cell number ( J:51339 )

increased B cell number ( J:51339 )

• increased percentage of B220+ cells in lymph nodes

decreased T cell number ( J:51339 )

• decreased numbers of CD3+ T cells in lymph nodes

• decreased ratio of double positive T cells in lymph nodes

increased T cell number ( J:51339 )

• increased percentage of memory activated T cells in periphery

• increased proportion of double positive T cells in spleen

abnormal lymph node morphology ( J:51339 )

• lymph node cells increased 2-3 fold

• increased numbers of eosinophiles

increased inflammatory response ( J:51339 )

blepharitis ( J:51339 )

• bilateral blepharitis by for weeks of age

• eyelids with edema and marked inflammatory infiltrates

interstitial pneumonia ( J:51339 )

• inflammatory infiltrate containing lymphocytes, macrophage, neutrophiles, and mast cells

respiratory system

interstitial pneumonia ( J:51339 )

• inflammatory infiltrate containing lymphocytes, macrophage, neutrophiles, and mast cells

vision/eye

blepharitis ( J:51339 )

• bilateral blepharitis by for weeks of age

• eyelids with edema and marked inflammatory infiltrates

Genotype
MGI:3525159

cx4

• 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 )

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

• spinal sensory neurons failed to project longitudinally

• commissural axon growth is disrupted

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

cx5

• 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