All Phenotypes Smad1<tm1Rob> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Smad1^tm1Rob/Smad1^tm1Rob	involves: 129S/SvEv * MF1	MGI:2448154
cx2	Smad1^tm1Rob/Smad1⁺ Smad9^tm2.1Rob/Smad9^tm2.1Rob	involves: 129S/SvEv	MGI:3702567
cx3	Smad1^tm1Rob/Smad1⁺ Smad5^tm1Zuk/Smad5⁺ Smad9^tm2.1Rob/Smad9^tm2.1Rob	involves: 129S/SvEv * 129S7/SvEvBrd	MGI:3702566
cx4	Smad1^tm1Rob/Smad1⁺ Smad5^tm1Zuk/Smad5⁺	involves: 129S/SvEv * 129S7/SvEvBrd	MGI:3702568

Allelic Composition	Smad1^tm1Rob/Smad1^tm1Rob
Genetic Background	involves: 129S/SvEv * MF1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1^tm1Rob mutation (0 available); any Smad1 mutation (32 available)

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:71998 )

• homozygotes are present at the expected Mendelian ratios at E9.5 but die by E10.5

embryo

abnormal embryo development ( J:71998 )

• homozygous mutant embryos are often abnormally positioned within the yolk sac

incomplete embryo turning ( J:71998 )

• at E9.5-E10.0, a subset of homozygotes exhibit incomplete embryo turning

abnormal mesoderm development ( J:71998 )

• at E7.0, homozygotes display extensive twisting of the newly formed mesoderm along the proximodistal axis

decreased embryo size ( J:71998 )

• homozygous mutant embryos are often smaller than wild-type embryos

abnormal embryonic epiblast morphology ( J:71998 )

• by E7.0, homozygotes display extensive twisting of the epiblast along the proximodistal axis

disorganized embryonic tissue ( J:71998 )

• homozygotes display severe distortion of the embryonic region

abnormal extraembryonic tissue morphology ( J:71998 )

abnormal allantois morphology ( J:71998 )

• at E8.0, homozygotes exhibit absence of a recognizable allantoic bud; only a small allantoic rudiment is observed at E8.5

• by E9.5, three allantois phenotypes are observed: a balloon-like structure with peripheral blood-filled vessels; a dense structure filled with compact mesenchyme and small blood-filled sacs; occasionally, an allantoic rudiment that fuses peripherally and non-uniformly with the chorionic surface of the placenta

abnormal chorion morphology ( J:71998 )

• at E8.5, homozygotes show overproliferation of chorionic tissue, as well as aberrant folding of the chorion within the exocoelomic cavity and defective proximal migration

abnormal placenta morphology ( J:71998 )

• homozygotes fail to establish a functional placental connection

absent umbilical cord ( J:71998 )

• homozygotes fail to form the umbilical connection to the placenta

abnormal chorioallantoic fusion ( J:71998 )

• occasionally, an allantoic rudiment fuses peripherally and non-uniformly with the chorionic surface of the placenta

abnormal visceral endoderm morphology ( J:71998 )

• at E7.0, homozygotes exhibit a localized outpocketing of the visceral endoderm at the posterior embryonic/extraembryonic junction

• despite ruffling of the visceral endoderm at E8.0-E8.5, the emerging AP axis is symmetrical, headfolds and somites form, gross visceral yolk sac morphology and mesoderm appear normal, and the node is clearly defined

reproductive system

decreased primordial germ cell number ( J:71998 )

• at E8.5, homozygotes show a significant reduction in the number of primordial germ cells

• 6 of 14 (43%) have no PGCs, 5 of 14 (36%) have fewer than ten and 3 of 14 (21%) have less than 25

cardiovascular system

distended pericardium ( J:71998 )

• at E9.5-E10.0, a subset of homozygotes exhibit a distended pericardium

growth/size/body

decreased embryo size ( J:71998 )

• homozygous mutant embryos are often smaller than wild-type embryos

abnormal ventral body wall morphology ( J:71998 )

• at E9.5-E10.0, a subset of homozygotes exhibit delayed ventral closure

cellular

decreased primordial germ cell number ( J:71998 )

• at E8.5, homozygotes show a significant reduction in the number of primordial germ cells

• 6 of 14 (43%) have no PGCs, 5 of 14 (36%) have fewer than ten and 3 of 14 (21%) have less than 25

Allelic Composition	Smad1^tm1Rob/Smad1⁺ Smad9^tm2.1Rob/Smad9^tm2.1Rob
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1^tm1Rob mutation (0 available); any Smad1 mutation (32 available)
Smad9^tm2.1Rob mutation (0 available); any Smad9 mutation (32 available)

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

mortality/aging

embryonic lethality during organogenesis ( J:119296 )

embryo

abnormal embryo development ( J:119296 )

abnormal embryonic tissue morphology ( J:119296 )

abnormal extraembryonic tissue morphology ( J:119296 )

growth/size/body

abnormal embryonic growth/weight/body size ( J:119296 )

cardiovascular system

abnormal heart development ( J:119296 )

nervous system

abnormal nervous system development ( J:119296 )

Allelic Composition	Smad1^tm1Rob/Smad1⁺ Smad5^tm1Zuk/Smad5⁺ Smad9^tm2.1Rob/Smad9^tm2.1Rob
Genetic Background	involves: 129S/SvEv * 129S7/SvEvBrd

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Smad1^tm1Rob mutation (0 available); any Smad1 mutation (32 available)
Smad5^tm1Zuk mutation (1 available); any Smad5 mutation (23 available)
Smad9^tm2.1Rob mutation (0 available); any Smad9 mutation (32 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:119296 )

• no live born mice are obtained

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:119296 )

• no viable embryos are recovered at E13.5

embryo

absent second pharyngeal arch ( J:119296 )

• second branchial arches are absent or severely compromised in their development

absent third pharyngeal arch ( J:119296 )

• third branchial arches are absent or severely compromised in their development

abnormal mesoderm development ( J:119296 )

• in the most severely affected mutants, mesoderm is underrepresented

abnormal left-right axis patterning ( J:119296 )

• expression of Nodal in embryos is disturbed in lateral plate mesoderm (LPM), showing compromised ability to activate left/right pathway in LPM

abnormal rostral-caudal axis patterning ( J:119296 )

• at E10.5 and 11.5, the most severely affected embryos (~33%) are poorly patterned along the anterior-posterior axis

incomplete rostral neuropore closure ( J:119296 )

• in some embryos, rostral regions of CNS tissue are correctly specified, but cranial folds fail to fuse

abnormal somite development ( J:119296 )

• somites are misaligned and fragmented in a high proportion of embryos

abnormal allantois morphology ( J:119296 )

• in many embryos, morphology is overtly normal except that allantois remains as a dense mass of tissue

• in some embryos the allantois is fused across the amnion

excessive folding of visceral yolk sac ( J:119296 )

• some embryos at E7.5 display ruffling of the visceral yolk sac

cardiovascular system

abnormal heart development ( J:119296 )

• heart chamber patterning and specification is severely disturbed

abnormal heart looping ( J:119296 )

• pronounced heart looping defects are observed in a high proportion of embryos

abnormal direction of heart looping ( J:119296 )

• in some embryos, there is inversion of looping direction

failure of heart looping ( J:119296 )

• in some embryos, looping is stalled, with heart tube remaining linear along ventral midline

abnormal heart tube morphology ( J:119296 )

• anterior-posterior patterning of heart tube is abnormal

nervous system

abnormal forebrain morphology ( J:119296 )

• in the most severely affected embryos, there is a spectrum of anterior defects; embryos show absence of anterior-most neural tissue by Fgf8 expression, whereas midbrain-hindbrain isthmus is specified

abnormal nervous system development ( J:119296 )

• most rostral regions of CNS are absent

incomplete rostral neuropore closure ( J:119296 )

• in some embryos, rostral regions of CNS tissue are correctly specified, but cranial folds fail to fuse

reproductive system

decreased primordial germ cell number ( J:119296 )

• at the 10-15 somite stage, mutants show greatly reduced numbers of primordial germ cells (PGCs) compared to wild-type (wild-type 80-100 cells)

• at 20-25 somite stage, there are 200-300 germ cells in hindgut in wild-type, most mutants lack germ cells and remainder (~40%) show 10-fold fewer cells

absent primordial germ cells ( J:119296 )

• in majority of embryos at the 20-25 somite stage, germ cells are absent

craniofacial

absent second pharyngeal arch ( J:119296 )

• second branchial arches are absent or severely compromised in their development

absent third pharyngeal arch ( J:119296 )

• third branchial arches are absent or severely compromised in their development

cellular

decreased primordial germ cell number ( J:119296 )

• at the 10-15 somite stage, mutants show greatly reduced numbers of primordial germ cells (PGCs) compared to wild-type (wild-type 80-100 cells)

• at 20-25 somite stage, there are 200-300 germ cells in hindgut in wild-type, most mutants lack germ cells and remainder (~40%) show 10-fold fewer cells

absent primordial germ cells ( J:119296 )

• in majority of embryos at the 20-25 somite stage, germ cells are absent

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