All Phenotypes Smad3<tm1Xfw> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Smad3^tm1Xfw
targeted mutation 1, Xiao Fan Wang
MGI:1857696

Summary

9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad3^tm1Xfw/Smad3^tm1Xfw	involves: 129/Sv * C57BL/6	MGI:2182651
cn2	Smad2^tm1Rob/Smad2^tm2Rob Smad3^tm1Xfw/Smad3⁺ Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺	involves: 129/Sv * 129S/SvEv * C57BL/6 * CBA * CD-1	MGI:3689505
cx3	Nog^tm1Amc/Nog⁺ Smad3^tm1Xfw/Smad3⁺	involves: 129/Sv * 129S1/Sv	MGI:4819099
cx4	Nog^tm1Amc/Nog^tm1Amc Smad3^tm1Xfw/Smad3⁺	involves: 129/Sv * 129S1/Sv	MGI:4819098
cx5	Nog^tm1Amc/Nog⁺ Smad3^tm1Xfw/Smad3^tm1Xfw	involves: 129/Sv * 129S1/Sv	MGI:4819100
cx6	Nog^tm1Amc/Nog^tm1Amc Smad3^tm1Xfw/Smad3^tm1Xfw	involves: 129/Sv * 129S1/Sv	MGI:4819101
cx7	Chrd^tm1Emdr/Chrd^tm1Emdr Smad3^tm1Xfw/Smad3⁺	involves: 129/Sv * 129S1/Sv * 129X1/SvJ	MGI:4819103
cx8	Chrd^tm1Emdr/Chrd^tm1Emdr Smad3^tm1Xfw/Smad3^tm1Xfw	involves: 129/Sv * 129S1/Sv * 129X1/SvJ	MGI:4819104
cx9	Smad2^tm3Rob/Smad2^tm3Rob Smad3^tm1Xfw/Smad3^tm1Xfw	involves: 129/Sv * 129S/SvEv * C57BL/6 * ICR	MGI:3527579

Allelic Composition	Smad3^tm1Xfw/Smad3^tm1Xfw
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad3^tm1Xfw mutation (0 available); any Smad3 mutation (18 available)

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

growth/size/body

decreased body size ( J:53948 )

• homozygotes are smaller than wild-type and heterozygous littermates

limbs/digits/tail

abnormal carpal bone morphology ( J:53948 )

• ~31% of mice have medially-torqued forepaws; one more limbs are affected

abnormal talus morphology ( J:53948 )

• a small percentage of animals have torqued hind limbs; one or more limbs are affected

skeleton

abnormal carpal bone morphology ( J:53948 )

• ~31% of mice have medially-torqued forepaws; one more limbs are affected

abnormal talus morphology ( J:53948 )

• a small percentage of animals have torqued hind limbs; one or more limbs are affected

abnormal thoracic cage morphology ( J:53948 )

• mice with severely affected limbs often display rib cage malformations

abnormal sternum morphology ( J:53948 )

• rib cage malformations often result in concave indentation at base of sternum

abnormal rib morphology ( J:53948 )

kyphosis ( J:53948 )

• mice with severely affected limbs often develop kyphosis

immune system

immune system phenotype ( J:53948 )

N	• although mutant cells show abnormal properties in vitro, B and T cell maturation, and functions like antibody production are normal in vivo

abnormal B cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal T cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal cytokine secretion ( J:53948 )

• Tgfb inhibits cytokine production in stimulated primary splenocyte cultures, but effect is less in mutant cultures

cellular

abnormal cell proliferation ( J:53948 )

• transforming growth factor beta (Tgfb)-mediated cell autonomous proliferation in wild-type fibroblasts is decreased ~50% after 24 hours and 80% after 48 hours while mutant fibroblasts show little effect

abnormal B cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal T cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

hematopoietic system

abnormal B cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

abnormal T cell proliferation ( J:53948 )

• proliferation of activated cells is not inhibited by Tgfb as are wild-type cells

Allelic Composition	Smad2^tm1Rob/Smad2^tm2Rob Smad3^tm1Xfw/Smad3⁺ Edil3^{Tg(Sox2-cre)1Amc}/Edil3⁺
Genetic Background	involves: 129/Sv * 129S/SvEv * C57BL/6 * CBA * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3^{Tg(Sox2-cre)1Amc} mutation (5 available); any Edil3 mutation (42 available)
Smad2^tm1Rob mutation (0 available); any Smad2 mutation (50 available)
Smad2^tm2Rob mutation (1 available); any Smad2 mutation (50 available)
Smad3^tm1Xfw mutation (0 available); any Smad3 mutation (18 available)

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

embryo

rostral body truncation ( J:84300 )

• embryos develop severe anterior truncations at E8.5

fused somites ( J:84300 )

• somites are fused across the midline at E8.5

digestive/alimentary system

absent foregut ( J:84300 )

• anterior gut is absent

cardiovascular system

abnormal heart development ( J:84300 )

• embryos develop heart malformations at E8.5

Allelic Composition	Nog^tm1Amc/Nog⁺ Smad3^tm1Xfw/Smad3⁺
Genetic Background	involves: 129/Sv * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nog^tm1Amc mutation (3 available); any Nog mutation (18 available)
Smad3^tm1Xfw mutation (0 available); any Smad3 mutation (18 available)

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

embryo

abnormal embryonic tissue morphology ( J:161524 )

• 5% (3 of 61) show defects in anterior midline tissues

Allelic Composition	Nog^tm1Amc/Nog^tm1Amc Smad3^tm1Xfw/Smad3⁺
Genetic Background	involves: 129/Sv * 129S1/Sv

Find Mice

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

nervous system

holoprosencephaly ( J:161524 )

• in 29% of mice

embryo

abnormal mesendoderm development ( J:161524 )

• expression analysis indicates defects in patterning and function in the anterior most axial mesendoderm

abnormal embryonic tissue morphology ( J:161524 )

• 29% (17 of 58) show defects in anterior midline tissues

abnormal anterior definitive endoderm morphology ( J:161524 )

• expression analysis indicates impairment in ADE specification

abnormal prechordal plate morphology ( J:161524 )

• expression analysis indicates defects in patterning and function

abnormal primitive streak formation ( J:161524 )

• expression analysis indicates a defect in anterior primitive streak development

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
holoprosencephaly		DOID:4621	OMIM:PS236100	J:161524

Allelic Composition	Nog^tm1Amc/Nog⁺ Smad3^tm1Xfw/Smad3^tm1Xfw
Genetic Background	involves: 129/Sv * 129S1/Sv

Find Mice

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

nervous system

holoprosencephaly ( J:161524 )

• in 2 of 16 mice

embryo

abnormal embryonic tissue morphology ( J:161524 )

• 13% (2 of 16) show defects in anterior midline tissues

Allelic Composition	Nog^tm1Amc/Nog^tm1Amc Smad3^tm1Xfw/Smad3^tm1Xfw
Genetic Background	involves: 129/Sv * 129S1/Sv

Find Mice

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

nervous system

holoprosencephaly ( J:161524 )

• in 60% of mice

embryo

abnormal embryonic tissue morphology ( J:161524 )

• 60% (18 of 30) show defects in anterior midline tissues

Allelic Composition	Chrd^tm1Emdr/Chrd^tm1Emdr Smad3^tm1Xfw/Smad3⁺
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Chrd^tm1Emdr mutation (1 available); any Chrd mutation (49 available)
Smad3^tm1Xfw mutation (0 available); any Smad3 mutation (18 available)

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

embryo

embryo phenotype ( J:161524 )

N	• no defects are detected in anterior midline tissues

Allelic Composition	Chrd^tm1Emdr/Chrd^tm1Emdr Smad3^tm1Xfw/Smad3^tm1Xfw
Genetic Background	involves: 129/Sv * 129S1/Sv * 129X1/SvJ

Find Mice

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

embryo

embryo phenotype ( J:161524 )

N	• no defects are detected in anterior midline tissues

Allelic Composition	Smad2^tm3Rob/Smad2^tm3Rob Smad3^tm1Xfw/Smad3^tm1Xfw
Genetic Background	involves: 129/Sv * 129S/SvEv * C57BL/6 * ICR

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad2^tm3Rob mutation (2 available); any Smad2 mutation (50 available)
Smad3^tm1Xfw mutation (0 available); any Smad3 mutation (18 available)

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

immune system

osteoarthritis ( J:95374 )

• double homozygotes develop osteoarthritis similar to Smad3 single homozygotes but do not show any increase in mortality

skeleton

osteoarthritis ( J:95374 )

• double homozygotes develop osteoarthritis similar to Smad3 single homozygotes but do not show any increase in mortality

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