Phenotypes associated with this allele

• Allele Symbol: Smarca4^tm1.2Pcn
• Allele Name: targeted mutation 1.2, Pierre Chambon
• Allele ID: MGI:3605892
• Summary: 19 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Smarca4^tm1Mag/Smarca4^tm1.2Pcn	involves: 129S2/SvPas	MGI:5582323
cn2	Smarca4^tm1.2Pcn/Smarca4^tm1Tich Tg(Lck-cre)1Cwi/0 Tg(LCKprBCL2L1)12Sjk/0	involves: 129	MGI:3830512
cn3	Smarca4^tm1.2Pcn/Smarca4^tm1Tich Tg(Lck-cre)1Cwi/0	involves: 129	MGI:3830511
cn4	Nfatc1^tm1(cre)Bz/Nfatc1^+ Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:5699725
cn5	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Nfatc1^tm1.1(cre)Bz/Nfatc1^+ Gt(ROSA)26Sor^tm4(ACTB-tdTomato,-EGFP)Luo/Gt(ROSA)26Sor^+	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:5699724
cn6	Nfatc1^tm1.1(cre)Bz/Nfatc1^+ Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn	involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ	MGI:5699720
cn7	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(KRT14-cre/ERT2)1Ipc/?	involves: 129S2/SvPas	MGI:3606860
cn8	Smarca2^tm1Mya/Smarca2^tm1Mya Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(KRT14-cre/ERT2)1Ipc/?	involves: 129S2/SvPas	MGI:3606862
cn9	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(Nfat1c-cre)1Bz/0	involves: 129S2/SvPas	MGI:5699727
cn10	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(Sox10-cre)1Wdr/0	involves: 129S2/SvPas * C57BL/6 * CBA	MGI:6241343
cn11	Smarca2^tm1Mya/Smarca2^+ Smarca4^tm1.2Pcn/Smarca4^tm1.1Pcn Tg(Myh11-cre,-EGFP)2Mik/0	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:5009696
cn12	Smarca4^tm1.2Pcn/Smarca4^tm1.1Pcn Tg(Myh11-cre,-EGFP)2Mik/0	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:5009694
cn13	Smarca2^tm1Mya/Smarca2^tm1Mya Smarca4^tm1.2Pcn/Smarca4^tm1.1Pcn Tg(Myh11-cre,-EGFP)2Mik/0	involves: 129S2/SvPas * C57BL/6 * DBA/2	MGI:5009697
cn14	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(KRT14-cre)1Ipc/?	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3606859
cn15	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(Tek-cre)1Ywa/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:5699726
cn16	Smarca4^tm1.2Pcn/Smarca4^tm1Mag Tg(Lck-cre)1Cwi/?	involves: 129S/Sv * C57BL/6 * DBA/2	MGI:2677147
cn17	Smarca4^tm1.2Pcn/Smarca4^tm1Mag Tg(Lck-cre)1Cwi/? Tg(LCKprBCL2)36Sjk/?	involves: 129S/Sv * C57BL/6 * DBA/2	MGI:2677148
cn18	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(Lck-cre)1Cwi/0 Tg(LCKprBCL2L1)12Sjk/0	Not Specified	MGI:3830514
cn19	Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn Tg(Lck-cre)1Cwi/0	Not Specified	MGI:3830513

Genotype
MGI:5582323

cn1

• Allelic Composition: Smarca4^tm1Mag/Smarca4^tm1.2Pcn
• Genetic Background: involves: 129S2/SvPas

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

cellular

cellular phenotype ( J:66861 )

N • cre-transfected mouse embryonic fibroblasts exhibit normal cell viability

Genotype
MGI:3830512

cn2

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1Tich; Tg(Lck-cre)1Cwi/0; Tg(LCKprBCL2L1)12Sjk/0
• Genetic Background: involves: 129

immune system

abnormal T cell morphology ( J:144072 )

• unlike in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi mice, a CD4-CD8+ population is not observed

• 25% of the post-DN3 population is composed of CD4-DN4 cells compared to 9% in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

• 39% of the post-DN3 population is composed of CD4+DN4 cells compared to 52% in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

• mice exhibit two CD4+ populations with different levels of CD4 expression

increased thymocyte number ( J:144072 )

increased double-negative T cell number ( J:144072 )

decreased double-positive T cell number ( J:144072 )

hematopoietic system

abnormal T cell morphology ( J:144072 )

• unlike in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi mice, a CD4-CD8+ population is not observed

• 25% of the post-DN3 population is composed of CD4-DN4 cells compared to 9% in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

• 39% of the post-DN3 population is composed of CD4+DN4 cells compared to 52% in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

• mice exhibit two CD4+ populations with different levels of CD4 expression

increased thymocyte number ( J:144072 )

increased double-negative T cell number ( J:144072 )

decreased double-positive T cell number ( J:144072 )

endocrine/exocrine glands

increased thymocyte number ( J:144072 )

Genotype
MGI:3830511

cn3

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1Tich; Tg(Lck-cre)1Cwi/0
• Genetic Background: involves: 129

immune system

abnormal T cell morphology ( J:144072 )

• 38% of the post-DN3 population is composed of CD4+CD8- cells compared to 14% in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi mice

• unlike in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi mice, a CD4-CD8+ population analogous to immature single positive cells is not observed

decreased thymocyte number ( J:144072 )

• thymocyte numbers are reduced 13-fold compared to in wild-type mice

decreased double-negative T cell number ( J:144072 )

• post-DN3 T cells are reduced compared to in wild-type mice

• however, DN3 cellularity is normal

hematopoietic system

abnormal T cell morphology ( J:144072 )

• 38% of the post-DN3 population is composed of CD4+CD8- cells compared to 14% in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi mice

• unlike in Smarca4^tm1Grc/Smarca4^tm1Grc Tg(Lck-cre)1Cwi mice, a CD4-CD8+ population analogous to immature single positive cells is not observed

decreased thymocyte number ( J:144072 )

• thymocyte numbers are reduced 13-fold compared to in wild-type mice

decreased double-negative T cell number ( J:144072 )

• post-DN3 T cells are reduced compared to in wild-type mice

• however, DN3 cellularity is normal

endocrine/exocrine glands

decreased thymocyte number ( J:144072 )

• thymocyte numbers are reduced 13-fold compared to in wild-type mice

Genotype
MGI:5699725

cn4

• Allelic Composition: Nfatc1^tm1(cre)Bz/Nfatc1⁺; Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

mortality/aging

mortality/aging ( J:226941 )

N • most mice have a normal lifespan

cardiovascular system

enlarged heart ( J:226941 )

• hearts are frequently enlarged with thickened ventricles

abnormal heart ventricle morphology ( J:226941 )

• thickened ventricles

abnormal aortic valve morphology ( J:226941 )

• aortic valves have myxomatous characteristics, with extensive proteoglycan-rich material throughout the valve and intermittent and dispersed collagen deposits rather than the typical enrichment of collagen along the atrial side of the cusps

• aortic valves show presence of irregular chondrocyte-like cells with large nuclei and scattered small-nucleated cells, especially at the lateral edges of the cusps where they contact neighboring muscle

bicuspid aortic valve ( J:226941 )

• 9 of 26 mice have a bicuspid aortic valve

thick aortic valve cusps ( J:226941 )

• adults frequently (21 of 26) have thickened aortic valve cusps

thick pulmonary valve ( J:226941 )

• pulmonic valves are thickened

• however, the mitral valve is normal

cardiomyopathy ( J:226941 )

• mice exhibit aortic valve disease with thickened, misorganized and myxomatous cusps, bicuspid arrangement formation usually arising from left coronary cusp-non-coronary cusp fusion, without calcification

muscle

cardiomyopathy ( J:226941 )

• mice exhibit aortic valve disease with thickened, misorganized and myxomatous cusps, bicuspid arrangement formation usually arising from left coronary cusp-non-coronary cusp fusion, without calcification

growth/size/body

enlarged heart ( J:226941 )

• hearts are frequently enlarged with thickened ventricles

Genotype
MGI:5699724

cn5

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Nfatc1^tm1.1(cre)Bz/Nfatc1⁺; Gt(ROSA)26Sor^{tm4(ACTB-tdTomato,-EGFP)Luo}/Gt(ROSA)26Sor⁺
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

cardiovascular system

abnormal semilunar valve morphology ( J:226941 )

• semilunar valves have reduced endocardial-derived mesenchyme

• 2-fold increase in EdU-incorporated mesenchymal cells, indicating increased proliferation of cushion mesenchyme

Genotype
MGI:5699720

cn6

• Allelic Composition: Nfatc1^tm1.1(cre)Bz/Nfatc1⁺; Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn
• Genetic Background: involves: 129S1/Sv * 129S2/SvPas * 129X1/SvJ

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:226941 )

• a decrease in fraction of viable mutants is first seen at E16.5, with few surviving after birth

perinatal lethality ( J:226941 )

• only 3% of the expected 25% of mice are seen at weaning and mice rarely survive to adulthood

cardiovascular system

abnormal aortic sinus morphology ( J:226941 )

• E16.5 aortic valves lack the typical extended aortic sinuses seen in wild-type littermates

abnormal coronary artery morphology ( J:226941 )

• coronary artery network is reduced in rare viable P0 pups

abnormal coronary vein morphology ( J:226941 )

• mutants have dilated coronary veins at P0

thick myocardium ( J:226941 )

• hearts from rare viable P0 pups have a thickened compact myocardium

abnormal cardiac outflow tract development ( J:226941 )

• the proximal outflow tract, but not the neural crest cell-populated distal outflow tract, cushion contains about half the normal number of mesenchymal cells at E10.5, less than 24 hours after endocardial-to-mesenchymal trasnformation onset

perimembraneous ventricular septal defect ( J:226941 )

• E14.5 mutants occasionally have a small membranous ventricular septal defect which usually resolves by E16.5 in surviving mutants

enlarged heart ( J:226941 )

• hearts from rare viable P0 pups are larger

abnormal semilunar valve morphology ( J:226941 )

• the thinner hinge region that demarcates the boundary between the distal and basal regions of each cusp of both aortic and pulmonic valves is absent at E16.5

• semilunar valve defects first become apparent at E14.5 as a decreased length:width ratio of the forming cusps

• expression analysis at E16.5 shows mislocalized extracellular matrix indicating a loss of patterning of the semilunar valve cusps into distinct base and distal regions

• however, the mitral valve is normal

abnormal aortic valve morphology ( J:226941 )

• aortic valves of rare survivors have myxomatous characteristics, with extensive proteoglycan-rich material throughout the valve and intermittent and dispersed collagen deposits rather than the typical enrichment of collagen along the atrial side of the cusps

• however, little or no change in calcification of aortic valves in rare surviving mice is seen

• rare survivors exhibit aortic valve disease with thickened, misorganized and myxomatous cusps, and bicuspid arrangement formation usually arising from left coronary cusp-non-coronary cusp fusion, without calcification

abnormal aortic valve cusp morphology ( J:226941 )

• E16.5 aortic valves lack the typical thin elongated cusps seen in wild-type littermates

bicuspid aortic valve ( J:226941 )

• 3 of 6 mutants exhibit bicuspid aortic valves: the bicuspid valve originates from a fusion between the left and non-coronary cusps, with residual individual cusp attachment points to the surrounding muscle

thick aortic valve ( J:226941 )

• hearts from newborns have thickened aortic valves

abnormal pulmonary valve cusp morphology ( J:226941 )

• the left and right cusps of the pulmonic valve have decreased length:width ratios, are increased in area, and have a modest increase in the number of interstitial cells per valve section at E16.5

thick pulmonary valve ( J:226941 )

• hearts from newborns have thickened pulmonic valves

thick heart valve cusps ( J:226941 )

• semilunar valve cusps are thickened and poorly elongated at E16.5

growth/size/body

enlarged heart ( J:226941 )

• hearts from rare viable P0 pups are larger

muscle

thick myocardium ( J:226941 )

• hearts from rare viable P0 pups have a thickened compact myocardium

Genotype
MGI:3606860

cn7

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(KRT14-cre/ERT2)1Ipc/?
• Genetic Background: involves: 129S2/SvPas

limbs/digits/tail

abnormal digit morphology ( J:101729 )

• if tamoxifen given to mothers between E9.5 and 13.5

• if induction with tamoxifen occurred between E12.5 and 16.5 then all limbs are normal

abnormal hindlimb morphology ( J:101729 )

• malformed in contrast to forelimbs which are normal if tamoxifen given to mothers between E9.5 and 13.5

• if induction with tamoxifen occurred between E12.5 and 16.5 then all limbs are normal

homeostasis/metabolism

impaired skin barrier function ( J:101729 )

• regardless of when tamoxifen induction occurred

integument

impaired skin barrier function ( J:101729 )

• regardless of when tamoxifen induction occurred

abnormal skin morphology ( J:101729 )

• regardless of when tamoxifen induction occurred

abnormal epidermis stratum corneum morphology ( J:101729 )

• 5 fold fewer corneodesmosomes

Genotype
MGI:3606862

cn8

• Allelic Composition: Smarca2^tm1Mya/Smarca2^tm1Mya; Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(KRT14-cre/ERT2)1Ipc/?
• Genetic Background: involves: 129S2/SvPas

homeostasis/metabolism

impaired skin barrier function ( J:101729 )

• regardless of when tamoxifen induction occurred

• very severely affected

integument

impaired skin barrier function ( J:101729 )

• regardless of when tamoxifen induction occurred

• very severely affected

abnormal skin morphology ( J:101729 )

• regardless of when tamoxifen induction occurred

abnormal epidermis stratum corneum morphology ( J:101729 )

• only 1-2 cornified cell layers present

abnormal epidermis stratum granulosum morphology ( J:101729 )

• swollen cytoplasm and nuclei

enlarged spinous cells ( J:101729 )

• swollen cytoplasm and nuclei

Genotype
MGI:5699727

cn9

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(Nfat1c-cre)1Bz/0
• Genetic Background: involves: 129S2/SvPas

cardiovascular system

cardiovascular system phenotype ( J:226941 )

N • mutants exhibit no change in semilunar valve morphology at E14.5 or E16.5

Genotype
MGI:6241343

cn10

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(Sox10-cre)1Wdr/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * CBA

embryo

abnormal melanoblast morphology ( J:241206 )

• embryos show a striking reduction in the numbers of cranial and ventral trunk melanoblasts at E12.5

nervous system

abnormal melanoblast morphology ( J:241206 )

• embryos show a striking reduction in the numbers of cranial and ventral trunk melanoblasts at E12.5

Genotype
MGI:5009696

cn11

• Allelic Composition: Smarca2^tm1Mya/Smarca2⁺; Smarca4^tm1.2Pcn/Smarca4^tm1.1Pcn; Tg(Myh11-cre,-EGFP)2Mik/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

digestive/alimentary system

enlarged cecum ( J:172661 )

• by 4 weeks of age

decreased colon length ( J:172661 )

• the colon is shorter than in wild-type mice

megacolon ( J:172661 )

• by 4 weeks of age

abnormal small intestine morphology ( J:172661 )

• enlarged by 4 weeks of age

decreased small intestine length ( J:172661 )

• mice exhibit short smaller intestine

Genotype
MGI:5009694

cn12

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.1Pcn; Tg(Myh11-cre,-EGFP)2Mik/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

mortality/aging

postnatal lethality, incomplete penetrance ( J:172661 )

• fewer than expected mice are present at P10 due to cardiopulmonary defects

digestive/alimentary system

abnormal intestinal smooth muscle morphology ( J:172661 )

• smooth muscle cells are disorganized in the colon compared to in wild-type mice

enlarged cecum ( J:172661 )

decreased colon length ( J:172661 )

• in neonates, the colon is shorter than in wild-type mice

megacolon ( J:172661 )

abnormal small intestine morphology ( J:172661 )

• mice exhibit enlarged ileum and jejunum compared with wild-type mice

enlarged ileum ( J:172661 )

• mice exhibit enlarged ileum compared with wild-type mice

abnormal jejunum morphology ( J:172661 )

• mice exhibit enlarged jejunum compared with wild-type mice

decreased small intestine length ( J:172661 )

• in neonates, the small intestines are shorter than in wild-type mice

muscle

abnormal intestinal smooth muscle morphology ( J:172661 )

• smooth muscle cells are disorganized in the colon compared to in wild-type mice

abnormal muscle physiology ( J:172661 )

• in neonates, smooth muscle cell apoptosis in the proximal and distal colon is increased compared to in wild-type mice

impaired smooth muscle contractility ( J:172661 )

• in response to KCl or carbachol, colonic rings exhibit impaired contractility compared with wild-type tissue

cardiovascular system

patent ductus arteriosus ( J:172661 )

• in cyanotic mice

ventricular septal defect ( J:172661 )

• in cyanotic mice

dilated heart ( J:172661 )

• in 6 of 18 mice at P0 to P2

abnormal pulmonary circulation ( J:172661 )

• lungs are hyperemic with accumulation of eosinophilic lipoproteinaceous material in the alveolar air space compared to in wild-type mice

congestive heart failure ( J:172661 )

respiratory system

abnormal pulmonary circulation ( J:172661 )

• lungs are hyperemic with accumulation of eosinophilic lipoproteinaceous material in the alveolar air space compared to in wild-type mice

pulmonary alveolar proteinosis ( J:172661 )

primary atelectasis ( J:172661 )

• in cyanotic mice

homeostasis/metabolism

cyanosis ( J:172661 )

• in 6 of 18 mice at P0 to P2

pulmonary alveolar proteinosis ( J:172661 )

cellular

patent ductus arteriosus ( J:172661 )

• in cyanotic mice

Genotype
MGI:5009697

cn13

• Allelic Composition: Smarca2^tm1Mya/Smarca2^tm1Mya; Smarca4^tm1.2Pcn/Smarca4^tm1.1Pcn; Tg(Myh11-cre,-EGFP)2Mik/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * DBA/2

mortality/aging

postnatal lethality, complete penetrance ( J:172661 )

• fewer than expected mice are present at P10

• no mice survives beyond 2 weeks

digestive/alimentary system

abnormal digestive system morphology ( J:172661 )

• by 7 to 10 days, all mice develop enlarged gastrointestinal tract unlike control mice

abnormal intestine morphology ( J:172661 )

• mice exhibit dilated intestines filled with air and fecal matter unlike control mice

abnormal intestinal smooth muscle morphology ( J:172661 )

• at E17.5, mice exhibit shorter small intestine compared with control mice

abnormal small intestine morphology ( J:172661 )

• at E17.5, mice exhibit shorter small intestine compared with control mice

muscle

abnormal intestinal smooth muscle morphology ( J:172661 )

• at E17.5, mice exhibit shorter small intestine compared with control mice

abnormal muscle physiology ( J:172661 )

• in neonates, smooth muscle cell apoptosis in the proximal and distal colon is increased compared to in control mice

• however, proliferation of intestinal smooth muscle cell is equivalent to in wild-type mice

impaired smooth muscle contractility ( J:172661 )

• cannulated colonic segments fail to exhibit spontaneous contractile activity compared with control tissue

renal/urinary system

abnormal urinary bladder morphology ( J:172661 )

• by 7 to 10 days, all mice exhibit enlarged urinary bladder unlike control mice

Genotype
MGI:3606859

cn14

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(KRT14-cre)1Ipc/?
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

mortality/aging

neonatal lethality, complete penetrance ( J:101729 )

• all dead within 4-6 hours of delivery

limbs/digits/tail

abnormal apical ectodermal ridge morphology ( J:101729 )

• abnormal in the hindlimbs but not forelimbs

• smaller cells and less densely packed

abnormal digit morphology ( J:101729 )

• in less extreme cases, all five digits are present but are abnormal

monodactyly ( J:101729 )

• on the hind limb

• occurs in more extreme cases

abnormal hindlimb morphology ( J:101729 )

• malformed in contrast to forelimbs which are normal

abnormal hindlimb zeugopod morphology ( J:101729 )

• in extreme cases, tibia is absent

• femur is always normal

embryo

abnormal apical ectodermal ridge morphology ( J:101729 )

• abnormal in the hindlimbs but not forelimbs

• smaller cells and less densely packed

homeostasis/metabolism

impaired skin barrier function ( J:101729 )

• epidermis is more permeable

• fetus shows 7 fold greater trans-epidermal water loss

• 5-10% of body weight lost within 4-6 hours of delivery

integument

impaired skin barrier function ( J:101729 )

• epidermis is more permeable

• fetus shows 7 fold greater trans-epidermal water loss

• 5-10% of body weight lost within 4-6 hours of delivery

abnormal skin morphology ( J:101729 )

• dorsal and ventral skin folds broader and more disorganized

abnormal epidermis stratum corneum morphology ( J:101729 )

• 4-6 layers as usual but flatter cells than normal

• vesicles rather than lipid discs between stratum granulosum and corneum

• lamellar membranes in corneum were disorganized and highly variable in thickness

• 5 fold fewer corneodesmosomes

• lower layers of epidermis essentially normal

dry skin ( J:101729 )

• skin becomes dry and waxy within 30-45 minutes of delivery

shiny skin ( J:101729 )

• red and glossy immediately after caesarian delivery

• sticky to touch

Genotype
MGI:5699726

cn15

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(Tek-cre)1Ywa/0
• Genetic Background: involves: 129S2/SvPas * C57BL/6 * SJL

cardiovascular system

abnormal cardiac outflow tract development ( J:226941 )

• E9.75 embryos exhibit a near complete absence of epithelial-to-mesenchymal transition in the proximal outflow tract

abnormal atrioventricular cushion morphology ( J:226941 )

• E9.75 embryos exhibit a near complete absence of epithelial-to-mesenchymal transition in the atrioventricular canal cushions

Genotype
MGI:2677147

cn16

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1Mag; Tg(Lck-cre)1Cwi/?
• Genetic Background: involves: 129S/Sv * C57BL/6 * DBA/2

hematopoietic system

thymus hypoplasia ( J:85191 )

• 40-100 fold reduction in cell numbers in the thymus

abnormal T cell differentiation ( J:85191 )

decreased double-negative T cell number ( J:85191 )

decreased double-positive T cell number ( J:85191 )

• absence of double positive T cells

arrested T cell differentiation ( J:85191 )

• T cells become arrested when cre inactivation occurs primarily at DN4 stage but sometimes earlier

• leads to expression of CD4 and to death of T cells

decreased CD4-positive, alpha-beta T cell number ( J:85191 )

• very small numbers of CD4+ cells

absent CD8-positive, alpha-beta T cells ( J:85191 )

• absence of CD8+ cells

immune system

thymus hypoplasia ( J:85191 )

• 40-100 fold reduction in cell numbers in the thymus

abnormal T cell differentiation ( J:85191 )

decreased double-negative T cell number ( J:85191 )

decreased double-positive T cell number ( J:85191 )

• absence of double positive T cells

arrested T cell differentiation ( J:85191 )

• T cells become arrested when cre inactivation occurs primarily at DN4 stage but sometimes earlier

• leads to expression of CD4 and to death of T cells

decreased CD4-positive, alpha-beta T cell number ( J:85191 )

• very small numbers of CD4+ cells

absent CD8-positive, alpha-beta T cells ( J:85191 )

• absence of CD8+ cells

endocrine/exocrine glands

thymus hypoplasia ( J:85191 )

• 40-100 fold reduction in cell numbers in the thymus

Genotype
MGI:2677148

cn17

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1Mag; Tg(Lck-cre)1Cwi/?; Tg(LCKprBCL2)36Sjk/?
• Genetic Background: involves: 129S/Sv * C57BL/6 * DBA/2

hematopoietic system

arrested T cell differentiation ( J:85191 )

• cells arrested in G1 phase of cell cycle leading to a 10 fold increase in cell numbers as opposed to animals lacking TgN(LCKprBCL2)36Sjk

immune system

arrested T cell differentiation ( J:85191 )

• cells arrested in G1 phase of cell cycle leading to a 10 fold increase in cell numbers as opposed to animals lacking TgN(LCKprBCL2)36Sjk

Genotype
MGI:3830514

cn18

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(Lck-cre)1Cwi/0; Tg(LCKprBCL2L1)12Sjk/0
• Genetic Background: Not Specified

immune system

abnormal T cell morphology ( J:144072 )

• 9% of the post-DN3 population is composed of CD4-DN4 cells compared to 25% in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

• 52% of the post-DN3 population is composed of CD4+DN4 cells compared to 39% in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

increased thymocyte number ( J:144072 )

• 8-fold compared to in Smarca4^tm1Gcr/Smarca4^tm1Tich Tg(Lck-cre)1Cwi mice

increased double-negative T cell number ( J:144072 )

• the DN2 population increases

• the DN3 population is rescued but is growth arrested

• the post-DN3 population is increased

decreased double-positive T cell number ( J:144072 )

• relative to DN4 cellularity

hematopoietic system

abnormal T cell morphology ( J:144072 )

• 9% of the post-DN3 population is composed of CD4-DN4 cells compared to 25% in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

• 52% of the post-DN3 population is composed of CD4+DN4 cells compared to 39% in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi Tg(LCKprBCL2L1)12Sjk mice

increased thymocyte number ( J:144072 )

• 8-fold compared to in Smarca4^tm1Gcr/Smarca4^tm1Tich Tg(Lck-cre)1Cwi mice

increased double-negative T cell number ( J:144072 )

• the DN2 population increases

• the DN3 population is rescued but is growth arrested

• the post-DN3 population is increased

decreased double-positive T cell number ( J:144072 )

• relative to DN4 cellularity

endocrine/exocrine glands

increased thymocyte number ( J:144072 )

• 8-fold compared to in Smarca4^tm1Gcr/Smarca4^tm1Tich Tg(Lck-cre)1Cwi mice

Genotype
MGI:3830513

cn19

• Allelic Composition: Smarca4^tm1.2Pcn/Smarca4^tm1.2Pcn; Tg(Lck-cre)1Cwi/0
• Genetic Background: Not Specified

immune system

abnormal T cell morphology ( J:144072 )

• 14% of the post-DN3 population is composed of CD4+CD8- cells compared to 38% in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi mice

• unlike in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi mice, a CD4-CD8+ population analogous to immature single positive cells is observed

decreased double-negative T cell number ( J:144072 )

• post-DN3 cells are virtually absent

hematopoietic system

abnormal T cell morphology ( J:144072 )

• 14% of the post-DN3 population is composed of CD4+CD8- cells compared to 38% in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi mice

• unlike in Smarca4^tm1Tich/Smarca4^tm1Tich Tg(Lck-cre)1Cwi mice, a CD4-CD8+ population analogous to immature single positive cells is observed

decreased double-negative T cell number ( J:144072 )

• post-DN3 cells are virtually absent