Phenotypes associated with this allele

• Allele Symbol: Nfatc1^tm1Glm
• Allele Name: targeted mutation 1, Laurie H Glimcher
• Allele ID: MGI:2181762
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Nfatc1^tm1Glm/Nfatc1^tm1Glm	B6.129S2-Nfatc1^tm1Glm	MGI:5432554
hm2	Nfatc1^tm1Glm/Nfatc1^tm1Glm	involves: 129S2/SvPas	MGI:3844247
ht3	Nfatc1^tm1Glm/Nfatc1^tm2Glm	chimera involves: 129S2/SvPas	MGI:3844068
cn4	Nfatc1^tm1Glm/Nfatc1^tm1Glm Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+ H2az2^Tg(Wnt1-cre)11Rth/H2az2^+	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * CBA	MGI:5432553
cn5	Nfatc1^tm1Glm/Nfatc1^tm1Glm Tg(Tek-cre)1Ywa/0 Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor^+	involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * SJL	MGI:5432552

Genotype
MGI:5432554

hm1

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm
• Genetic Background: B6.129S2-Nfatc1^tm1Glm

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

cardiovascular system

abnormal cardiac outflow tract development ( J:185683 )

• at E11.5, a significant decrease in proliferation of endocardial cells in the proximal outflow tract (pOFT) is observed; by E13.5 this decrease is more pronounced at the leading edge of the primitive semilunar valves

decreased atrioventricular cushion size ( J:185683 )

• at E11.5, a significant decrease in proliferation of cushion mesenchyme in the AVC

abnormal semilunar valve morphology ( J:185683 )

• no elevated apoptosis is detected after E12.5 in mutants in contrast to wild-type controls

Genotype
MGI:3844247

hm2

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm
• Genetic Background: involves: 129S2/SvPas

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:46398 )

• no surviving homozygotes at birth and a slight reduction in heterozygotes

• embryo proportions normal at E8.5-E12.5

• increasingly fewer viable homozygotes from E13.5-E17.5

• E14.5 embryos are pale

cardiovascular system

abnormal heart morphology ( J:46398 )

ventricular septal defect ( J:46398 )

abnormal semilunar valve morphology ( J:46398 )

absent aortic valve cusps ( J:46398 )

• valve leaflets absent

absent pulmonary valve cusps ( J:46398 )

• valve leaflets absent

pericardial effusion ( J:46398 )

• observed at E14.5

abnormal cardiovascular system physiology ( J:46398 )

abnormal blood circulation ( J:99892 )

• blood flow indices significantly lower than controls at E11.5-E14.5

• increased aortic flow to the placenta from E12.5-E14.5

• greater than normal umbilical pulsatility at E13.5-E14.5

gastrointestinal hemorrhage ( J:46398 )

• abdominal hemorrhage at E14.5

semilunar valve regurgitation ( J:99892 )

• blood flow reversal during diastole in more than 80% of E13.5-E14.5 embryos

• blood flow abnormal in only 19.5% of E10.5 embryos

homeostasis/metabolism

pericardial effusion ( J:46398 )

• observed at E14.5

edema ( J:46398 )

• embryos at E14.5 are edematous

digestive/alimentary system

gastrointestinal hemorrhage ( J:46398 )

• abdominal hemorrhage at E14.5

integument

pallor ( J:46398 )

• embryos at E14.5 are pale

Genotype
MGI:3844068

ht3

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm2Glm
• Genetic Background: chimera involves: 129S2/SvPas

immune system

abnormal lymphocyte cell number ( J:78376 )

increased double-negative T cell number ( J:78376 )

• in all hypoplastic thymi but are blastocyst derived

decreased lymphocyte cell number ( J:78376 )

• marked deficiency of thymocytes, peripheral lymph node cells, and splenic lymphocytes in four of seven 10-22 week old chimeric mice

• inverse relationsip between the degree of chimerism and lymphoid reconsititution in five mice between 10 and 14 weeks in age

• mice at 17 and 22 weeks show normal lymphoid reconstitution

• ratio of T to B cells normal

decreased double-positive T cell number ( J:78376 )

• decreased numbers but normal ratio of CD4+ to CD8+ single positive cells

abnormal immune system physiology ( J:78376 )

abnormal lymphocyte physiology ( J:78376 )

abnormal B cell physiology ( J:78376 )

• diminished proliferative response to anti-CD40

• response to anti-CD40 in culture can be partially restored by recombinant Il4

abnormal immunoglobulin level ( J:78376 )

decreased immunoglobulin level ( J:78376 )

decreased IgE level ( J:78376 )

• markedly decreased

• corrollated to Il4 levels secreted by T-cells

decreased IgG1 level ( J:78376 )

• markedly decreased

• corrollated to Il4 levels secreted by T-cells

decreased IgG2b level ( J:78376 )

• normal to slightly decreased

decreased IgG3 level ( J:78376 )

• normal to slightly decreased

increased immunoglobulin level ( J:78376 )

increased IgA level ( J:78376 )

increased IgG2a level ( J:78376 )

increased IgM level ( J:78376 )

abnormal T cell physiology ( J:78376 )

• reduced proliferative response to anti-CD3

abnormal T-helper 2 physiology ( J:78376 )

• impaired generation of Th2 cells

abnormal interferon-gamma secretion ( J:78376 )

abnormal interleukin-2 secretion ( J:78376 )

decreased interleukin-4 secretion ( J:78376 )

• very reduced

hematopoietic system

abnormal lymphocyte cell number ( J:78376 )

increased double-negative T cell number ( J:78376 )

• in all hypoplastic thymi but are blastocyst derived

decreased lymphocyte cell number ( J:78376 )

• marked deficiency of thymocytes, peripheral lymph node cells, and splenic lymphocytes in four of seven 10-22 week old chimeric mice

• inverse relationsip between the degree of chimerism and lymphoid reconsititution in five mice between 10 and 14 weeks in age

• mice at 17 and 22 weeks show normal lymphoid reconstitution

• ratio of T to B cells normal

decreased double-positive T cell number ( J:78376 )

• decreased numbers but normal ratio of CD4+ to CD8+ single positive cells

abnormal lymphocyte physiology ( J:78376 )

abnormal B cell physiology ( J:78376 )

• diminished proliferative response to anti-CD40

• response to anti-CD40 in culture can be partially restored by recombinant Il4

abnormal immunoglobulin level ( J:78376 )

decreased immunoglobulin level ( J:78376 )

decreased IgE level ( J:78376 )

• markedly decreased

• corrollated to Il4 levels secreted by T-cells

decreased IgG1 level ( J:78376 )

• markedly decreased

• corrollated to Il4 levels secreted by T-cells

decreased IgG2b level ( J:78376 )

• normal to slightly decreased

decreased IgG3 level ( J:78376 )

• normal to slightly decreased

increased immunoglobulin level ( J:78376 )

increased IgA level ( J:78376 )

increased IgG2a level ( J:78376 )

increased IgM level ( J:78376 )

abnormal T cell physiology ( J:78376 )

• reduced proliferative response to anti-CD3

abnormal T-helper 2 physiology ( J:78376 )

• impaired generation of Th2 cells

Genotype
MGI:5432553

cn4

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺; H2az2^{Tg(Wnt1-cre)11Rth}/H2az2⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * CBA

cardiovascular system

abnormal cardiac outflow tract development ( J:185683 )

• thinning of neural crest-derived mesenchyme in the distal outflow tract (dOFT) of E12.5 embryos, affecting the formation of the base of the aortic valve

Genotype
MGI:5432552

cn5

• Allelic Composition: Nfatc1^tm1Glm/Nfatc1^tm1Glm; Tg(Tek-cre)1Ywa/0; Gt(ROSA)26Sor^tm1Sho/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S2/SvPas * 129S4/SvJaeSor * C57BL/6 * SJL

cardiovascular system

abnormal cardiac outflow tract development ( J:185683 )

• boundary of the proximal outflow tract (pOFT) and distal outflow tract (dOFT) at the outflow tract bend is distrupted, with an extension of endocardium-derived mesenchyme into the dOFT cushion in mutants