Mouse Genome Informatics
hm1
    Nodaltm1Rob/Nodaltm1Rob
involves: 129S/SvEv
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• phenotype is stated to be identical to that of NodalTg(MPSVNeo)413.dRob homozygotes; however no data are presented in J:32935

embryogenesis

growth/size/body


Mouse Genome Informatics
ht2
    Nodaltm1Rob/Nodal+
involves: 129S/SvEv
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype


Mouse Genome Informatics
ht3
    Nodaltm1Rob/Nodal+
Not Specified
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
Data Sources
growth/size/body

homeostasis/metabolism

other phenotype


Mouse Genome Informatics
ht4
    Nodaltm1Rob/Nodaltm2Rob
involves: 129S/SvEv * ICR
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• in some mice
• severely affected mice exhibit a decrease in midline tissue compared with wild-type mice due to abnormal gastrulation movements
• at E8.5, mice exhibit a reduction in anterior neural tissues compared with wild-type mice
• in some mice
• fused somites
• constriction at the boundary in 40% of mice at E6.5
• at E6.5, 40% of embryos are abnormal with thickened patch of visceral endoderm characteristic of the anterior visceral endoderm

cardiovascular system
• in some mice


Mouse Genome Informatics
cn5
    Meox2tm1(cre)Sor/Meox2+
Nodaltm1Rob/Nodaltm5Rob

involves: 129S/SvEv * 129S4/SvJaeSor * 129S6/SvEvTac * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• development was variable
• fail to rotate their proximal distal axis
• variable amounts of anterior truncation at E6.5
• in severe cases an elongate morphology at E6.5
• profound anterior truncations by E8.5
• embryos occasionally protrude outside the yolk sac at E6.5


Mouse Genome Informatics
cn6
    Nodaltm1Rob/Nodaltm5Rob
Tg(Sox2-cre)1Amc/0

involves: 129S/SvEv * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• lacked mesoderm at gastrulation
• thickened distal visceral endoderm


Mouse Genome Informatics
cn7
    Nodaltm1Rob/Nodal+
Tg(Sox2-cre)1Amc/0
Tgif1tm1Caw/Tgif1tm1Caw
Tgif2tm1Dwot/Tgif2tm1Dwot

involves: 129S/SVEv * C57BL/6 * C57BL/6J * CBA
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• expression analysis suggests there are some mild defects in left right patterning

cardiovascular system
N
• unlike in double null mice wild-type for Nodal, heart looping morphogenesis is normal


Mouse Genome Informatics
cn8
    Eomestm1Rob/Eomes+
Nodaltm1Rob/Nodal+
Tg(Sox2-cre)1Amc/0

involves: 129S/SvEv * C57BL/6 * CBA
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• severely affected embryos are not recovered

embryogenesis
• embryos with anterior axis truncations are recovered at low frequency


Mouse Genome Informatics
cx9
    Acvr1ctm1Cfi/Acvr1c+
Gdf1tm1Sjl/Gdf1+
Nodaltm1Rob/Nodal+

involves: 129 * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
normal phenotype


Mouse Genome Informatics
cx10
    Nodaltm1Rob/Nodal+
Tgif1tm1Dwot/Tgif1tm1Dwot
Tgif2tm1Dwot/Tgif2tm1Dwot

involves: 129/Sv * 129S/SvEv * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
N
• unlike in double null mice wild-type for Nodal, the embryonic cavity has formed by E8.5 and a distinct AP axis is present


Mouse Genome Informatics
cx11
    Acvr1btm1Enl/Acvr1b+
Gdf1tm1Sjl/Gdf1+
Nodaltm1Rob/Nodal+

involves: 129/Sv * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• 3 of 19 mutants have a single forebrain vesicle

respiratory system
• 3 of 19 mutants have a fused nasal cavity

craniofacial
• 3 of 19 mutants have a fused nasal cavity

growth/size/body
• 3 of 19 mutants have a fused nasal cavity


Mouse Genome Informatics
cx12
    Acvr1ctm1Cfi/Acvr1ctm1Cfi
Nodaltm1Rob/Nodal+

involves: 129P2/OlaHsd * 129/Sv
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
N
• expected numbers of compound mutants are detected at weaning


Mouse Genome Informatics
cx13
    Cer1tm1Bhr/Cer1tm1Bhr
Lefty1tm1Hmd/Lefty1tm1Hmd
Nodaltm1Rob/Nodal+

involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * CD-1
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• all triple mutant embryos at 7.5 dpc show morphological defects similar to or less severe than Cer1 Lefty1 double mutants


Mouse Genome Informatics
cx14
    Lefty2tm1Hmd/Lefty2tm1Hmd
Nodaltm1Rob/Nodal+

involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6Cr
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging

embryogenesis
• defects in embryogenesis due to a lack of Lefty2 are partially rescued although mice die in late gastrulation


Mouse Genome Informatics
cx15
    Nodaltm1Rob/Nodal+
Nogtm1Amc/Nogtm1Amc

involves: 129S/SvEv * 129S1/Sv
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
N
• no defects are detected in anterior midline tissues


Mouse Genome Informatics
cx16
    Foxa2tm1Jrt/Foxa2+
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• in embryos with loss of left-right asymmetry in Nodal expression the direction of turning is randomized
• seen in all embryos

growth/size/body
• in 7 of 10 mutants the positioning of the abdominal viscera and heart is abnormal


Mouse Genome Informatics
cx17
    Chrdtm1Emdr/Chrdtm1Emdr
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
nervous system
• in 14 of 19 mice with defects in anterior midline tissues

embryogenesis
• expression analysis indicates defects in patterning and function
• 23% (19 of 83) show defects in anterior midline tissues
• 14 of these 19 show holoprosencephaly in association with anterior body truncation and fused first pharyngeal arches
• fused in 14 of 19 mice with defects in anterior midline tissues
• expression analysis indicates defects in patterning and function in the anterior most axial mesendoderm
• expression analysis indicates impairment in ADE specification

cardiovascular system
• cardiac laterality defects are seen in 5 mice

craniofacial
• fused in 14 of 19 mice with defects in anterior midline tissues


Mouse Genome Informatics
cx18
    Gdf1tm1Sjl/Gdf1tm1Sjl
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• fewer than expected mutants at E13.5

embryogenesis
• defects are seen in structures arising from the first but not the second branchial arch
• at E9.0, the first branchial arch is fused, lacking a midline division
• primitive streak elongation is normal but significant reduction in the number of axial mesendoderm cells is detected in about 50% of mutants
• the prechordal plate marker Gsc is significantly downregulated at the late headfold stage and the prechordal plate is absent in severely affected embryos
• fail to develop anterior neural folds
• anterior defects only
• absent at E8.5 in the most severely affected embryos
• at E9.0 expression of Shh, a marker of the notochord at this stage, is anteriorly truncated

craniofacial
• severely affected embryos lack jaws
• defects are seen in structures arising from the first but not the second branchial arch
• at E9.0, the first branchial arch is fused, lacking a midline division
• seen in 68% of embryos at E13.5, associated with holoprosencephaly
• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue
• hypomorphic nasal septum resulting in a fused nasal cavity

nervous system
• anterior defects only
• seen in 68% of embryos at E13.5, associated with gross rostral truncation and cleft lip
• thickening of the diencephalon seen in embryos with holoprosencephaly
• a recessed third ventricle that fails to expand ventrally is seen in embryos with holoprosencephaly

digestive/alimentary system
• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue
• at E9.0, in most embryos the foregut does not reach into the center of the first branchial arch unlike in wild-type mice

respiratory system
• hypomorphic nasal septum resulting in a fused nasal cavity

skeleton
• severely affected embryos lack jaws

growth/size/body
• seen in 68% of embryos at E13.5, associated with holoprosencephaly
• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue
• hypomorphic nasal septum resulting in a fused nasal cavity


Mouse Genome Informatics
cx19
    Acvr2atm1Hsch/Acvr2atm1Hsch
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S1/Sv * C57BL/6J
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• embryonic lethality although time not specified

embryogenesis
• over 60% show gastrulation defects

nervous system
• 4 of 13 embryos that developed beyond gastrulation have a reduced forebrain

vision/eye
• 6 of 8 newborns display cyclopia

growth/size/body
• 6 of 8 newborns show truncation of rostral head structures


Mouse Genome Informatics
cx20
    Nodaltm1Rob/Nodaltm2Rob
Trim33tm1.2Los/Trim33tm1.2Los

involves: 129S/SvEv * 129S2/SvPas * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
N
• at E6.25 decrease in Nodal expression rescues patterning defects in the anterior visceral endoderm, extraembryonic ectoderm and mesoderm and the decrease in embryo size that are seen in Trim33 single homozygotes


Mouse Genome Informatics
cx21
    Nodaltm1Rob/Nodal+
Trim33tm1.2Los/Trim33tm1.2Los

involves: 129S/SvEv * 129S2/SvPas * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
N
• the decrease in Nodal expression rescues patterning defects in the extraembryonic ectoderm and mesoderm and the decrease in embryo size that are seen in Trim33 single homozygotes


Mouse Genome Informatics
cx22
    Smad2tm1Enl/Smad2+
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S4/SvJae
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• at E9.5 11 of 20 embryos had gastrulation defects similar to those in Smad2 single heterozygotes
• 3 of 20 turn in the opposite direction compared to wild-type mice
• in affected embryos lateral plate mesoderm is restricted to the posterior region
• 32% (8 of 25) have defects in left-right patterning
• in the most severe cases the rostral head and eyes are truncated

cardiovascular system
• 3 of 20 have abnormal heart looping
• most common cardiac defect in embryos with left-right patterning abnormalities

growth/size/body
• seen in 6 of 25 embryos, these mice also have transposition of the great arteries

craniofacial
• at E15.5 - E17.5 severe craniofacial defects are seen in 14 of 25 mutants

vision/eye
• present at E15.5 - E17.5 in 9 of 25

respiratory system
• seen in 6 of 25 embryos, these mice also have transposition of the great arteries


Mouse Genome Informatics
cx23
    Drap1tm1Mms/Drap1tm1Mms
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S6/SvEvTac
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• mutant embryos die by E9.5

embryogenesis
• mutant embryos are partially rescued from the mesoderm defects observed in Drap1tm1Mms homozygotes, but are still unable to complete gastrulation
• at E7.5 and E8.25, mutant embryos display a characteristic proximal bulge in the caudal primitive streak


Mouse Genome Informatics
cx24
    Eomestm1.1Rob/Eomes+
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• AVE is correctly induced but fails to migrate anteriorly
• heart patterning abnormalities are observed by E9.5 due to loss of midline structures
• at E8.5, development of the node is severely disturbed in a subset of mutants
• complete node duplications are observed in some mutants
• the most severely affected double heterozygotes show abnormalities around E7 and fail to form a primitive streak
• embryos lack visible germ layers
• left-right patterning abnormalities are observed by E9.5 due to loss of midline structures
• floor plate expansion results in increased spacing between somite rows at E9.5
• by E9.5, mutants lack head structures rostral to the otic placodes
• in the most severely affected embryos, relatively complete duplications of the posterior body axis are observed, including extra somite rows
• node abnormalities result in expansion of the floor plate of the neural tube
• node duplications are accompanied by formation of an accessory notochord
• addition rows of somites are observed in the most severely affected embryos
• by late gastrulation stages, embryos are grossly disorganized
• the most severely affected embryos develop pronounced constrictions between the embryonic and extraembryonic regions of the conceptus
• embryos frequently show tissue accumulation within the amniotic cavity

nervous system
• node abnormalities result in expansion of the floor plate of the neural tube

cellular
• AVE is correctly induced but fails to migrate anteriorly


Mouse Genome Informatics
cx25
    Cer1tm1Bhr/Cer1tm1Bhr
Lefty1tm1Sla/Lefty1tm1Sla
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129S7/SvEvBrd * CD-1
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
embryogenesis
• all triple mutant embryos at 7.5 dpc show morphological defects similar to or less severe than Cer1 Lefty1 double mutants


Mouse Genome Informatics
cx26
    Col2a1tm1.1Ksec/Col2a1tm1.1Ksec
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• the frequency of head abnormalities is not significantly different from Col2a1tm1.1Ksec single homozygotes


Mouse Genome Informatics
cx27
    Col2a1tm1.1Ksec/Col2a1+
Nodaltm1Rob/Nodal+

involves: 129S/SvEv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females
phenotype observed in males
N normal phenotype
growth/size/body
• the frequency of head abnormalities is not significantly different from Col2a1tm1.1Ksec single heterozygotes