All Phenotypes Smad2<tm1Cxd> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad2^tm1Cxd/Smad2^tm1Cxd	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:2182331
ht2	Smad2^tm1Cxd/Smad2⁺	involves: 129S6/SvEvTac * C57BL/6	MGI:3758896
ht3	Smad2^tm1Cxd/Smad2^tm1Mwst	involves: 129S6/SvEvTac * Black Swiss	MGI:3513603
cn4	Amhr2^tm3(cre)Bhr/Amhr2⁺ Smad2^tm1Cxd/Smad2^tm1.1Mwst	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6	MGI:3822483
cn5	Amhr2^tm3(cre)Bhr/Amhr2⁺ Smad2^tm1Cxd/Smad2^tm1.1Mwst Smad3^tm1Par/Smad3^tm1Zuk	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3822485
cx6	M1665Asr/M1665Asr⁺ Smad2^tm1Cxd/Smad2⁺	involves: 129S6/SvEvTac * Black Swiss * C57BL/6J	MGI:3823081
cx7	M2195Asr/M2195Asr⁺ Smad2^tm1Cxd/Smad2⁺	involves: 129S6/SvEvTac * Black Swiss * C57BL/6J	MGI:3823087
cx8	Smad2^tm1Cxd/Smad2⁺ Smad3^tm1Cxd/Smad3⁺	involves: 129S6/SvEvTac * C57BL/6	MGI:3758897
cx9	Smad2^tm1Cxd/Smad2⁺ Smad3^tm1Cxd/Smad3⁺	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:3758892

Allelic Composition	Smad2^tm1Cxd/Smad2^tm1Cxd
Genetic Background	involves: 129S6/SvEvTac * NIH Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2^tm1Cxd mutation (0 available); any Smad2 mutation (52 available)

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

Morphological analysis of the Smad2^tm1Cxd/Smad2^tm1Cxd embryo

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:49084 )

• die before E8.5, with absorbed embryos first seen at E7.5

embryo

abnormal developmental patterning ( J:49084 )

failure to gastrulate ( J:49084 )

embryonic growth arrest ( J:49084 )

• arrest at E7.5 without undergoing gastrulation

decreased embryo size ( J:49084 )

• much smaller at E6.5 and E7.5, with a large reduction in the extraembryonic portion of the egg cylinder

abnormal egg cylinder morphology ( J:49084 )

• abnormal egg cylinder formation with failure of egg cylinder elongation

absent mesoderm ( J:49084 )

• the mesodermal cell layer is not seen at E7.5 or E8.5 and marker analysis indicates that embryos fail to form the mesoderm

absent head fold ( J:49084 )

• E7.5 embryos do not form a distinguishable headfold

failure of primitive streak formation ( J:49084 )

• E7.5 embryos do not form a distinguishable primitive streak

abnormal extraembryonic tissue morphology ( J:49084 )

• E6.5 embryos lack the extraembryonic portion of egg cylinders

abnormal ectoplacental cone morphology ( J:49084 )

• at E6.5, the ectoplacental cone is directly adjacent to the epiblast

absent allantois ( J:49084 )

• E7.5 embryos lack a morphologically distinguishable allantois

absent amnion ( J:49084 )

• E7.5 embryos lack morphologically distinguishable amnion

absent chorion ( J:49084 )

• E7.5 embryos lack a morphologically distinguishable chorion

absent extraembryonic ectoderm ( J:49084 )

• E6.5 embryos lack extraembryonic ectoderm

abnormal extraembryonic endoderm formation ( J:49084 )

• E6.5 embryos lack extraembryonic endoderm

growth/size/body

decreased embryo size ( J:49084 )

• much smaller at E6.5 and E7.5, with a large reduction in the extraembryonic portion of the egg cylinder

Allelic Composition	Smad2^tm1Cxd/Smad2⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2^tm1Cxd mutation (0 available); any Smad2 mutation (52 available)

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

craniofacial

abnormal Meckel's cartilage morphology ( J:76396 )

• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay

abnormal mandible morphology ( J:76396 )

• some heterozygotes have severely defective mandibles

• mandible formation is delayed and displaced in first branchial arch explants cultured in vitro

skeleton

abnormal Meckel's cartilage morphology ( J:76396 )

• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay

abnormal mandible morphology ( J:76396 )

• some heterozygotes have severely defective mandibles

• mandible formation is delayed and displaced in first branchial arch explants cultured in vitro

vision/eye

abnormal eye morphology ( J:76396 )

• some heterozygotes have severely defective eyes

Allelic Composition	Smad2^tm1Cxd/Smad2^tm1Mwst
Genetic Background	involves: 129S6/SvEvTac * Black Swiss

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2^tm1Cxd mutation (0 available); any Smad2 mutation (52 available)
Smad2^tm1Mwst mutation (0 available); any Smad2 mutation (52 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:94232 )

• homozygous embryos die before E11.5

Allelic Composition	Amhr2^tm3(cre)Bhr/Amhr2⁺ Smad2^tm1Cxd/Smad2^tm1.1Mwst
Genetic Background	involves: 129S6/SvEvTac * 129S7/SvEvBrd * C57BL/6

Find Mice

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

reproductive system

reproductive system phenotype ( J:142827 )

N	• mice exhibit normal reproductive morphology and physiology

Allelic Composition	Amhr2^tm3(cre)Bhr/Amhr2⁺ Smad2^tm1Cxd/Smad2^tm1.1Mwst Smad3^tm1Par/Smad3^tm1Zuk
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Amhr2^tm3(cre)Bhr mutation (1 available); any Amhr2 mutation (29 available)
Smad2^tm1.1Mwst mutation (0 available); any Smad2 mutation (52 available)
Smad2^tm1Cxd mutation (0 available); any Smad2 mutation (52 available)
Smad3^tm1Par mutation (2 available); any Smad3 mutation (22 available)
Smad3^tm1Zuk mutation (0 available); any Smad3 mutation (22 available)

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

cellular

decreased oocyte number ( J:142827 )

• in superovulation experiments, mice ovulate half as many oocytes as wild-type mice

reproductive system

decreased oocyte number ( J:142827 )

• in superovulation experiments, mice ovulate half as many oocytes as wild-type mice

abnormal ovarian follicle morphology ( J:142827 )

• at 3 months, mice contain luteinizing follicles that encompass trapped oocytes unlike in wild-type mice

• at 8 months, mice exhibit more severe follicular abnormalities than at 3 moths with aberrant cumulus cell-oocytes unlike in wild-type mice

decreased tertiary ovarian follicle number ( J:142827 )

• at 3 months, fewer antral follicles are present compared to in wild-type ovaries

increased atretic ovarian follicle number ( J:142827 )

• at 3 months, a marker of follicular atresia accumulates unlike in wild-type ovaries

abnormal cumulus expansion ( J:142827 )

• treatment with pregnant mare serum gonadotropin (PMSG) induces only minimal cumulus expansion unlike in similarly treated wild-type mice and few cumulus cells attach to oocytes

• in culture, cumulus cells undergo disorganized and limited expansion in response to EGF compared to similarly treated wild-type cells

• in culture, cumulus cells stimulated by EGF detach from the cumulus oocyte complexes and attach to the culture plate leaving 18% of oocytes denuded unlike wild-type cells

premature ovarian failure ( J:142827 )

• females exhibit reduced fertility and premature ovarian failure becoming infertile after 4 months of breeding unlike in wild-type mice

reduced female fertility ( J:142827 )

decreased litter size ( J:142827 )

homeostasis/metabolism

increased circulating follicle stimulating hormone level ( J:142827 )

• at 8 months

increased circulating luteinizing hormone level ( J:142827 )

• at 8 months

mortality/aging

premature ovarian failure ( J:142827 )

• females exhibit reduced fertility and premature ovarian failure becoming infertile after 4 months of breeding unlike in wild-type mice

endocrine/exocrine glands

abnormal ovarian follicle morphology ( J:142827 )

• at 3 months, mice contain luteinizing follicles that encompass trapped oocytes unlike in wild-type mice

• at 8 months, mice exhibit more severe follicular abnormalities than at 3 moths with aberrant cumulus cell-oocytes unlike in wild-type mice

decreased tertiary ovarian follicle number ( J:142827 )

• at 3 months, fewer antral follicles are present compared to in wild-type ovaries

increased atretic ovarian follicle number ( J:142827 )

• at 3 months, a marker of follicular atresia accumulates unlike in wild-type ovaries

abnormal cumulus expansion ( J:142827 )

• treatment with pregnant mare serum gonadotropin (PMSG) induces only minimal cumulus expansion unlike in similarly treated wild-type mice and few cumulus cells attach to oocytes

• in culture, cumulus cells undergo disorganized and limited expansion in response to EGF compared to similarly treated wild-type cells

• in culture, cumulus cells stimulated by EGF detach from the cumulus oocyte complexes and attach to the culture plate leaving 18% of oocytes denuded unlike wild-type cells

premature ovarian failure ( J:142827 )

• females exhibit reduced fertility and premature ovarian failure becoming infertile after 4 months of breeding unlike in wild-type mice

Allelic Composition	M1665Asr/M1665Asr⁺ Smad2^tm1Cxd/Smad2⁺
Genetic Background	involves: 129S6/SvEvTac * Black Swiss * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
M1665Asr mutation (0 available); any M1665Asr mutation (0 available)
Smad2^tm1Cxd mutation (0 available); any Smad2 mutation (52 available)

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

growth/size/body

increased lean body mass ( J:141536 )

increased body weight ( J:141536 )

• originally identified in the Smad2^tm1Cxd/Smad2⁺; however no interaction effect of Smad2^tm1Cxd genotype was observed

skeleton

increased bone mineral density ( J:141536 )

• higher total body bone density measured by DEXA, as compared to control mice

Allelic Composition	M2195Asr/M2195Asr⁺ Smad2^tm1Cxd/Smad2⁺
Genetic Background	involves: 129S6/SvEvTac * Black Swiss * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
M2195Asr mutation (0 available); any M2195Asr mutation (0 available)
Smad2^tm1Cxd mutation (0 available); any Smad2 mutation (52 available)

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

growth/size/body

decreased body weight ( J:141536 )

• originally identified in the Smad2^tm1Cxd/Smad2⁺; however no interaction effect of Smad2^tm1Cxd genotype was observed

skeleton

decreased bone mineral content ( J:141536 )

• low bone mineral content measured by DEXA, as compared to control mice

decreased bone mass ( J:141536 )

• low total bone area as compared to control mice

Allelic Composition	Smad2^tm1Cxd/Smad2⁺ Smad3^tm1Cxd/Smad3⁺
Genetic Background	involves: 129S6/SvEvTac * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2^tm1Cxd mutation (0 available); any Smad2 mutation (52 available)
Smad3^tm1Cxd mutation (0 available); any Smad3 mutation (22 available)

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

craniofacial

abnormal Meckel's cartilage morphology ( J:76396 )

• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay

skeleton

abnormal Meckel's cartilage morphology ( J:76396 )

• E11 mandibular explants cultured in vitro form thinner Meckel's cartilage and show a developmental delay

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

mortality/aging

lethality throughout fetal growth and development, complete penetrance ( J:106308 )

• lethality by E14.5 due to hepatic dysplasia

embryonic lethality during organogenesis, incomplete penetrance ( J:70388 )

• 10 of 21 E8.5-E10.5 mutants suffer lethality due to patterning defects

growth/size/body

embryonic growth retardation ( J:106308 )

• severely affected mutants are growth retarded at E9.5

increased fetal size ( J:70388 )

• E14.5 mutants are somewhat larger in size

liver/biliary system

abnormal hepatoblast migration ( J:106308 )

• marker analysis indicates defects in hepatoblast migration

abnormal liver morphology ( J:70388 )

• liver architecture is distorted

• cultured livers from E10.5 mutants do not exhibit outgrowth of liver lobules with primitive bile ducts as in wild-type, instead, they suffer extensive cell death or fail to develop normal liver architecture

dilated liver sinusoidal space ( J:70388 )

• dilated sinusoidal spaces

delayed hepatic development ( J:106308 )

• marker analysis indicates a delay in hepatogenesis

abnormal hepatic cord morphology ( J:70388 )

• arrangement of hepatocytes is abnormal in E14.5 livers; hepatocytes are found in small clusters and cell plates are absent unlike in wild-type where cords of hepatocytes are distributed throughout in the parenchyma

small liver ( J:70388 )

• small livers but have the correct number of lobes and appear red

liver hypoplasia ( J:70388 , J:106308 )

• 100% of E14.5 mutants exhibit severe liver hypoplasia (J:70388)

• liver is reduced in some mutants at E12.5-E14.5 (J:106308)

abnormal hepatocyte physiology ( J:70388 )

• hepatocytes cultured in vitro fail to adhere well to various substrates, expression of beta1 integrin is lost, and E-cadherin is mislocalized, indicating that hepatocytes have abnormal adhesive properties

decreased hepatocyte proliferation ( J:70388 )

• liver cells are in a less proliferative state than in wild-type as indicated by PCNA antibody staining

hematopoietic system

increased erythrocyte cell number ( J:70388 )

• increase in the number of erythrocytes in E14.5 livers

craniofacial

abnormal craniofacial morphology ( J:70388 , J:106308 )

• 20% of E14.5 mutants exhibit craniofacial defects in addition to the liver hypoplaisa (J:70388)

• some embryos display craniofacial defects as early as E8.5 (J:106308)

cardiovascular system

dilated liver sinusoidal space ( J:70388 )

• dilated sinusoidal spaces

abnormal heart looping ( J:106308 )

• some embryos exhibit abnormal heart looping

abnormal pericardial cavity morphology ( J:106308 )

• some embryos exhibit an enlarged pericardiac cavity

digestive/alimentary system

abnormal foregut morphology ( J:106308 )

• anterior ventral foregut defects at E8.5 as indicated by marker analysis, showing that the definitive endoderm fails to displace the visceral endoderm at the anterior intestinal portal

embryo

abnormal developmental patterning ( J:106308 )

• 54 of 106 mutants display patterning abnormalities of varying severity at E9.5-E10.5

• some embryos display midline defects as early as E8.5

abnormal gastrulation ( J:106308 )

• gastrulation defects

abnormal endoderm development ( J:106308 )

• definitive endoderm is reduced at E8.5 as indicated by marker analysis

• mutants display defects in the specification of hepatogenic endoderm

embryonic growth retardation ( J:106308 )

• severely affected mutants are growth retarded at E9.5

abnormal somite development ( J:106308 )

• severely affected mutants exhibit irregular somites at E9.5

endocrine/exocrine glands

small thyroid gland ( J:106308 )

• reduced thyroid at E10.5

nervous system

holoprosencephaly ( J:106308 )

• seen in some mutants

vision/eye

cyclopia ( J:106308 )

• seen in some mutants

cellular

abnormal hepatoblast migration ( J:106308 )

• marker analysis indicates defects in hepatoblast migration

decreased hepatocyte proliferation ( J:70388 )

• liver cells are in a less proliferative state than in wild-type as indicated by PCNA antibody staining

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