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Mammalian Phenotype Ontology Annotations
Query Results - Summary
Symbol
Name
ID 		Smad4
SMAD family member 4
MGI:894293
155 phenotypes from 19 alleles in 28 genetic backgrounds
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Allelic Composition
Genetic Background		 Annotated Term Reference
Amhr2tm3(cre)Bhr/Amhr2+
Smad4tm1Rob/Smad4tm1.1Rob
involves: 129S/SvEv * C57BL/6J 		abnormal cumulus expansion J:108954
abnormal granulosa cell morphology J:108954
abnormal ovarian follicle morphology J:108954
abnormal ovarian folliculogenesis J:108954
abnormal secondary ovarian follicle morphology J:108954
absent cumulus expansion J:108954
decreased litter size J:108954
decreased oocyte number J:108954
decreased ovulation rate J:108954
decreased tertiary ovarian follicle number J:108954
increased circulating progesterone level J:108954
increased secondary ovarian follicle number J:108954
infertility J:108954
Bmp7tm6(cre)Rob/Bmp7+
Smad4tm1Rob/Smad4tm1.1Rob
involves: 129S/SvEv * C57BL/6 * SJL 		abnormal kidney development J:108109
abnormal renal glomerulus morphology J:108109
decreased kidney collecting duct number J:108109
hydroureter J:108109
kidney cyst J:108109
perinatal lethality, incomplete penetrance J:108109
postnatal lethality, complete penetrance J:108109
small kidney J:108109
Ptf1atm1.1(cre)Cvw/Ptf1a+
Smad4tm1Rdp/Smad4tm1Rdp
involves: 129 * FVB/N 		normal endocrine/exocrine gland phenotype J:116130
Smad4E6sad/Smad4+
B6.129P2-Smad4E6sad 		colon polyps J:107273
decreased tumor-free survival time J:107273
gastric polyps J:107273
intestine polyps J:107273
Smad4E6sad/Smad4+
involves: 129P2/OlaHsd * C57BL/6 		increased intestinal adenoma incidence J:81488
increased stomach tumor incidence J:81488
stomach epithelial hyperplasia J:81488
Smad4E6sad/Smad4E6sad
involves: 129P2/OlaHsd * C57BL/6 		embryonic growth retardation J:81488
prenatal lethality, complete penetrance J:81488
Smad4m1Mag/Smad4m1Mag
either: (involves: 129S/Sv * Black Swiss) or (involves: 129S/Sv * C57BL/6) 		no abnormal phenotype detected J:80520
Smad4m1Mag/Smad4tm1Cxd
either: (involves: 129S/Sv * 129S6/SvEvTac * Black Swiss) or (involves: 129S/Sv * 129S6/SvEvTac * C57BL/6) 		no abnormal phenotype detected J:80520
Smad4m2Mag/Smad4m2Mag
either: (involves: 129S/Sv * Black Swiss) or (involves: 129S/Sv * C57BL/6) 		no abnormal phenotype detected J:80520
Smad4m2Mag/Smad4tm1Cxd
either: (involves: 129S/Sv * 129S6/SvEvTac * Black Swiss) or (involves: 129S/Sv * 129S6/SvEvTac * C57BL/6) 		no abnormal phenotype detected J:80520
Smad4m3Mag/Smad4m3Mag
either: (involves: 129S/Sv * Black Swiss) or (involves: 129S/Sv * C57BL/6) 		no abnormal phenotype detected J:80520
Smad4m3Mag/Smad4tm1Cxd
either: (involves: 129S/Sv * 129S6/SvEvTac * Black Swiss) or (involves: 129S/Sv * 129S6/SvEvTac * C57BL/6) 		no abnormal phenotype detected J:80520
Smad4m4Mag/Smad4+
involves: 129S/Sv * Black Swiss * C57BL/6 		abnormal cecum morphology J:106440
abnormal duodenum morphology J:106440
abnormal large intestine morphology J:106440
abnormal small intestine morphology J:106440
abnormal stomach glandular epithelium morphology J:106440
disorganized stomach mucosa J:106440
gastric polyps J:106440
increased lung tumor incidence J:106440
increased ovary tumor incidence J:106440
increased stomach tumor incidence J:106440
increased tumor incidence J:106440
Smad4m4Mag/Smad4m4Mag
either: (involves: 129S/Sv * Black Swiss) or (involves: 129S/Sv * C57BL/6) 		absent mesoderm J:80520
embryonic growth retardation J:80520
embryonic lethality between implantation and somite formation, complete penetrance J:80520
failure to gastrulate J:80520
Smad4m4Mag/Smad4tm1Cxd
either: (involves: 129S/Sv * 129S6/SvEvTac * Black Swiss) or (involves: 129S/Sv * 129S6/SvEvTac * C57BL/6) 		absent mesoderm J:80520
embryonic growth retardation J:80520
embryonic lethality between implantation and somite formation, complete penetrance J:80520
failure to gastrulate J:80520
Smad4tm1.1Gsu/Smad4tm1.1Gsu
Ptf1atm1.1(cre)Cvw/Ptf1a+
involves: 129S1/Sv * 129X1/SvJ 		normal endocrine/exocrine gland phenotype J:229184
Smad4tm1.1Rob/Smad4+
involves: 129S/SvEv * CD-1 		increased stomach tumor incidence J:92066
Smad4tm1.1Rob/Smad4tm1.1Rob
involves: 129S/SvEv * CD-1 		abnormal embryonic epiblast morphology J:92066
abnormal endoderm development J:92066
abnormal proximal-distal axis patterning J:92066
abnormal visceral endoderm morphology J:92066
Smad4tm1.1Rob/Smad4tm2.1Rob
involves: 129S/SvEv * C57BL/6 		no abnormal phenotype detected J:141589
Smad4tm1Cxd/Smad4+
involves: 129S6/SvEvTac 		no abnormal phenotype detected J:46852
Smad4tm1Cxd/Smad4tm1Cxd
involves: 129S6/SvEvTac 		abnormal embryonic tissue morphology J:46852
abnormal embryonic-extraembryonic boundary morphology J:46852
abnormal endoderm development J:46852
abnormal extraembryonic tissue morphology J:46852
absent egg cylinders J:46852
absent mesoderm J:46852
decreased cell proliferation J:46852
decreased embryo size J:46852
decreased embryonic epiblast cell proliferation J:46852
decreased inner cell mass proliferation J:46852
embryonic growth arrest J:46852
embryonic lethality between implantation and somite formation, incomplete penetrance J:46852
embryonic lethality between somite formation and embryo turning, incomplete penetrance J:46852
failure of primitive streak formation J:46852
increased Reichert's membrane thickness J:46852
small ectoplacental cone J:46852
Smad4tm1Mak/Smad4tm1Mak
either: (involves: 129P2/OlaHsd * C57BL/6J) or (involves: 129P2/OlaHsd * C57BL/6J * CD-1) 		abnormal ectoderm development J:45399
abnormal embryonic tissue morphology J:45399
abnormal embryonic-extraembryonic boundary morphology J:45399
abnormal mesoderm development J:45399
abnormal visceral endoderm morphology J:45399
absent mesoderm J:45399
decreased cell proliferation J:45399
decreased embryo size J:45399
disorganized extraembryonic tissue J:45399
embryonic growth arrest J:45399
embryonic lethality between implantation and somite formation, complete penetrance J:45399
failure of primitive streak formation J:45399
failure to gastrulate J:45399
rostral body truncation J:45399
Smad4tm1Mmt/Smad4+
B6.129S2-Smad4tm1Mmt 		duodenum polyps J:59214
gastric polyps J:59214
Smad4tm1Mmt/Smad4tm1Mmt
involves: 129S2/SvPas * C57BL/6 		embryonic lethality between implantation and somite formation, complete penetrance J:46242
Smad4tm1Rdp/Smad4tm1.1Rdp
Tg(CAG-cre)13Miya/0
involves: 129S/SvEv * 129S2/SvPas * C57BL/6 * SJL 		abnormal embryo development J:163858
absent anterior visceral endoderm J:163858
Smad4tm1Rdp/Smad4tm1Rdp
Tg(Pdx1-cre)89.1Dam/0
involves: 129S/SvEv * C57BL/6 * CBA * FVB/N 		duodenum polyps J:116130
normal endocrine/exocrine gland phenotype J:116130
Smad4tm1Rob/Smad4tm1.1Rob
Edil3Tg(Sox2-cre)1Amc/Edil3+
involves: 129S/SvEv * CD-1 		abnormal allantois morphology J:92066
abnormal dorsal-ventral axis patterning J:92066
abnormal hindbrain development J:92066
abnormal rhombomere morphology J:92066
abnormal rostral-caudal axis patterning J:92066
absent foregut J:92066
absent hindgut J:92066
absent primordial germ cells J:92066
embryonic lethality during organogenesis, complete penetrance J:92066
fused somites J:92066
Smad4tm1Rob/Smad4tm1.1Rob
Tg(Hoxb7-cre)1Rob/0
involves: 129S/SvEv 		premature death J:108109
normal renal/urinary system phenotype J:108109
Smad4tm2.1Cxd/Smad4+
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S6/SvEvTac * C57BL/6J * CD-1 		increased compact bone thickness J:211171
malocclusion J:211171
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Kdrtm1(cre)Sato/Kdr+
involves: 129S1/Sv * 129S6/SvEvTac 		abnormal embryonic hematopoiesis J:112269
abnormal trabecula carnea morphology J:112269
abnormal vitelline vasculature morphology J:112269
absent atrioventricular cushions J:112269
embryonic lethality during organogenesis, complete penetrance J:112269
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(ACTA1-cre)AMcle/0
involves: 129S6/SvEvTac * C57BL/6 		abnormal heart right ventricle morphology J:164492
abnormal heart ventricle outflow tract morphology J:164492
abnormal trabecula carnea morphology J:164492
double outlet right ventricle J:164492
embryonic lethality during organogenesis, incomplete penetrance J:164492
prenatal lethality, complete penetrance J:164492
thin ventricle myocardium compact layer J:164492
ventricular septal defect J:164492
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Capn8-cre)1Xya/0
involves: 129S6/SvEvTac * FVB/N 		normal digestive/alimentary phenotype J:153563
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Dppa3-cre/Esr1*)3Sait/0
involves: 129S6/SvEvTac * C57BL/6 * DBA 		abnormal male meiosis J:191052
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Foxn1-cre)8Ghr/0
B6.Cg-Smad4tm2.1Cxd Tg(Foxn1-cre)8Ghr 		abnormal thymus physiology J:138837
small thymus J:138837
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Krt1-15-cre/PGR*)22Cot/0
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6J * SJL/J 		abnormal hair growth J:203922
enlarged sebaceous gland J:203922
hair follicle degeneration J:203922
normal neoplasm J:203922
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(KRT5-cre)1Xya/0
involves: 129S6/SvEvTac 		abnormal hair follicle morphology J:101602
abnormal hair follicle regression J:101602
abnormal hypodermis morphology J:101602
abnormal keratinocyte morphology J:101602
abnormal keratinocyte physiology J:101602
abnormal skin appearance J:101602
alopecia J:101602
enlarged hair follicles J:101602
hyperkeratosis J:101602
increased carcinoma incidence J:101602
increased keratinocyte proliferation J:101602
increased skin papilloma incidence J:101602
increased skin tumor incidence J:101602
premature death J:101602
thick epidermis J:101602
thick epidermis stratum basale J:101602
thick hair follicle outer root sheath J:101602
thick skin J:101602
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Nes-cre)1Atp/0
involves: 129S6/SvEvTac * FVB/N 		abnormal cerebellar molecular layer J:86155
decreased Purkinje cell number J:86155
embryonic lethality, complete penetrance J:86155
increased vertical activity J:86155
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Pou5f1-cre/ERT2)#Ysa/0
involves: 129S6/SvEvTac 		abnormal male meiosis J:191052
Smad4tm2.1Cxd/Smad4tm2.1Cxd
Tg(Sp7-tTA,tetO-EGFP/cre)1Amc/0
involves: 129S6/SvEvTac * C57BL/6J * CD-1 		abnormal bone collagen fibril morphology J:211171
abnormal compact bone lamellar structure J:211171
abnormal enamel morphology J:211171
abnormal long bone diaphysis morphology J:211171
abnormal osteoblast physiology J:211171
abnormal osteocyte morphology J:211171
abnormal tibia morphology J:211171
abnormal tooth morphology J:211171
abnormal trabecular bone morphology J:211171
clavicle hypoplasia J:211171
decreased body size J:211171
decreased bone mineral density J:211171
decreased compact bone thickness J:211171
decreased diameter of tibia J:211171
decreased osteoclast cell number J:211171
delayed bone ossification J:211171
malocclusion J:211171
postnatal lethality, incomplete penetrance J:211171
premature death J:211171
rib fractures J:211171
short tibia J:211171
small incisors J:211171
small thoracic cavity J:211171
Smad4tm2.1Rob/Smad4tm2.1Rob
either: (involves: 129S/SvEv * C57BL/6) or (involves: 129S/SvEv * C57BL/6 * CBA) 		no abnormal phenotype detected J:141589
Smad4tm2.2Cxd/Smad4tm2.2Cxd
involves: Black Swiss 		embryonic lethality between implantation and somite formation, complete penetrance J:75140
Smad4tm2Cxd/Smad4tm2Cxd
involves: Black Swiss 		embryonic lethality between implantation and somite formation, complete penetrance J:75140
Smad4tm3Rob/Smad4tm3Rob
involves: 129S/SvEv * C57BL/6 		no abnormal phenotype detected J:141589
Tg(Amh-Smad4)1Tkw/0
involves: CD-1 		arrest of spermatogenesis J:79698
azoospermia J:79698
decreased male germ cell number J:79698
decreased testis weight J:79698
normal homeostasis/metabolism phenotype J:79698
increased circulating testosterone level J:79698
increased Leydig cell number J:79698
increased male germ cell apoptosis J:79698
male infertility J:79698
seminiferous tubule degeneration J:79698
small seminiferous tubules J:79698
small testis J:79698
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11/12/2024
MGI 6.24 		The Jackson Laboratory