Phenotypes associated with this allele

• Allele Symbol: Smad1⁺
• Allele Name: wild type
• Allele ID: MGI:2155851
• Summary: 6 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Smad1^tm1Rjle/Smad1^+	involves: 129S6/SvEvTac * C57BL/6	MGI:5827844
ht2	Smad1^tm1Rjle/Smad1^+	involves: 129S6/SvEvTac * NIH Black Swiss	MGI:3582566
cx3	Bmpr2^tm1Mmue/Bmpr2^+ Smad1^tm1Rjle/Smad1^+	involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6	MGI:5827848
cx4	Smad1^tm1Rob/Smad1^+ Smad9^tm2.1Rob/Smad9^tm2.1Rob	involves: 129S/SvEv	MGI:3702567
cx5	Smad1^tm1Rob/Smad1^+ Smad5^tm1Zuk/Smad5^+ Smad9^tm2.1Rob/Smad9^tm2.1Rob	involves: 129S/SvEv * 129S7/SvEvBrd	MGI:3702566
cx6	Smad1^tm1Rob/Smad1^+ Smad5^tm1Zuk/Smad5^+	involves: 129S/SvEv * 129S7/SvEvBrd	MGI:3702568

Genotype
MGI:5827844

ht1

• Allelic Composition: Smad1^tm1Rjle/Smad1⁺
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

cardiovascular system

cardiovascular system phenotype ( J:224752 )

♂N • mice do not exhibit increased right ventricular systolic pressure or right ventricular hypertrophy at 3 or 6 months of age

Genotype
MGI:3582566

ht2

• Allelic Composition: Smad1^tm1Rjle/Smad1⁺
• Genetic Background: involves: 129S6/SvEvTac * NIH Black Swiss

mortality/aging

postnatal lethality ( J:99098 )

• significant reduction in the number of heterozygous mutant mice at weaning

nervous system

abnormal neural tube morphology ( J:99098 )

• increased cellular proliferation in the dorsal region of the neural tube but not in the ventral region, resulting in neuroectodermal hypercellularity

abnormal midbrain morphology ( J:99098 )

• about 22% of E11.5 embryos exhibit reductions in the midbrain and hindbrain

abnormal hindbrain morphology ( J:99098 )

• about 22% of E11.5 embryos exhibit reductions in the midbrain and hindbrain

abnormal cranial nerve morphology ( J:99098 )

• have a curved cranial nerve likely to be a secondary effect caused by the abnormal architecture of the hindbrain

abnormal spinal nerve morphology ( J:99098 )

• exhibit a truncated spinal accessory nerve at E11.5

embryo

abnormal neural tube morphology ( J:99098 )

• increased cellular proliferation in the dorsal region of the neural tube but not in the ventral region, resulting in neuroectodermal hypercellularity

Genotype
MGI:5827848

cx3

• Allelic Composition: Bmpr2^tm1Mmue/Bmpr2⁺; Smad1^tm1Rjle/Smad1⁺
• Genetic Background: involves: 129S1/SvImJ * 129S6/SvEvTac * C57BL/6

cardiovascular system

heart right ventricle hypertrophy ( J:224752 )

♂ • right ventricular hypertrophy by 6 months of age

increased right ventricle systolic pressure ( J:224752 )

♂ • by 6 months of age, mice develop more severe elevations in right ventricular systolic pressure than single Bmpr2 heterozygotes

growth/size/body

heart right ventricle hypertrophy ( J:224752 )

♂ • right ventricular hypertrophy by 6 months of age

muscle

heart right ventricle hypertrophy ( J:224752 )

♂ • right ventricular hypertrophy by 6 months of age

Genotype
MGI:3702567

cx4

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

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 )

Genotype
MGI:3702566

cx5

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

mortality/aging

prenatal lethality, complete penetrance ( J:119296 )

• no live born mice are obtained

Genotype
MGI:3702568

cx6

• Allelic Composition: Smad1^tm1Rob/Smad1⁺; Smad5^tm1Zuk/Smad5⁺
• Genetic Background: involves: 129S/SvEv * 129S7/SvEvBrd

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