All Phenotypes Nodal<+> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Nodal⁺
wild type
MGI:2181675

Summary

27 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	\Nodal^{tm1b(EUCOMM)Wtsi}/\Nodal⁺	C57BL/6N-Nodal^{tm1b(EUCOMM)Wtsi}/H	MGI:6263031
ht2	\Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:6393318
cn3	\Nodal^tm1Rob/\Nodal⁺ \Edil3^{Tg(Sox2-cre)1Amc}/\Edil3⁺ \Tgif1^tm1Caw/\Tgif1^tm1Caw \Tgif2^tm1Dwot/\Tgif2^tm1Dwot	involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA	MGI:4437426
cn4	\Eomes^tm1Rob/\Eomes⁺ \Nodal^tm1Rob/\Nodal⁺ \Edil3^{Tg(Sox2-cre)1Amc}/\Edil3⁺	involves: 129S/SvEv * C57BL/6 * CBA	MGI:3775737
cx5	\Nodal^tm1Rob/\Nodal⁺ \Zic2^Ku/\Zic2^Ku	129S.Cg-Nodal^tm1Rob Zic2^Ku	MGI:5827606
cx6	\Nodal^tm2Rob/\Nodal⁺ \Zic2^Ku/\Zic2^Ku	129S.Cg-Nodal^tm2Rob Zic2^Ku	MGI:5827602
cx7	\Nodal^tm1Hmd/\Nodal⁺ \Tg(Rr443-Lefty1,-lacZ)36Hmd/0	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)	MGI:2654949
cx8	\Acvr1c^tm1Cfi/\Acvr1c⁺ \Gdf1^tm1Sjl/\Gdf1⁺ \Nodal^tm1Rob/\Nodal⁺	involves: 129 * C57BL/6	MGI:3625850
cx9	\Dand5^tm1Belo/\Dand5^tm1Belo \Nodal^tm1.1Mku/\Nodal⁺	involves: 129/Ola * C57BL/6J	MGI:3056267
cx10	\Cer1^tm1Bhr/\Cer1^tm1Bhr \Lefty1^tm1Hmd/\Lefty1^tm1Hmd \Nodal^tm1Rob/\Nodal⁺	involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * CD-1	MGI:3775813
cx11	\Lefty2^tm1Hmd/\Lefty2^tm1Hmd \Nodal^tm1Rob/\Nodal⁺	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6Cr	MGI:3720060
cx12	\Acvr1c^tm1Cfi/\Acvr1c^tm1Cfi \Nodal^tm1Rob/\Nodal⁺	involves: 129P2/OlaHsd * 129/Sv	MGI:3512303
cx13	\Nodal^tm1Rob/\Nodal⁺ \Nog^tm1Amc/\Nog^tm1Amc	involves: 129S/SvEv * 129S1/Sv	MGI:4819102
cx14	\Chrd^tm1Emdr/\Chrd^tm1Emdr \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:4819097
cx15	\Foxa2^tm1Jrt/\Foxa2⁺ \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ	MGI:3625856
cx16	\Gdf1^tm1Sjl/\Gdf1^tm1Sjl \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3625849
cx17	\Acvr2a^tm1Hsch/\Acvr2a^tm1Hsch \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S1/Sv * C57BL/6J	MGI:3696946
cx18	\Nodal^tm1Rob/\Nodal⁺ \Trim33^tm1.2Los/\Trim33^tm1.2Los	involves: 129S/SvEv * 129S2/SvPas * C57BL/6	MGI:4830333
cx19	\Smad2^tm1Enl/\Smad2⁺ \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S4/SvJae	MGI:2182498
cx20	\Drap1^tm1Mms/\Drap1^tm1Mms \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S6/SvEvTac	MGI:3850317
cx21	\Eomes^tm1.1Rob/\Eomes⁺ \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA	MGI:3775732
cx22	\Cer1^tm1Bhr/\Cer1^tm1Bhr \Lefty1^tm1Sla/\Lefty1^tm1Sla \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129S7/SvEvBrd * CD-1	MGI:3775810
cx23	\Col2a1^tm1.1Ksec/\Col2a1^tm1.1Ksec \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129X1/SvJ * C57BL/6	MGI:4830266
cx24	\Nodal^tm1Rob/\Nodal⁺ \Tgif1^tm1Dwot/\Tgif1^tm1Dwot \Tgif2^tm1Dwot/\Tgif2^tm1Dwot	involves: 129S/SvEv * 129X1/SvJ * C57BL/6	MGI:4437425
cx25	\Col2a1^tm1.1Ksec/\Col2a1⁺ \Nodal^tm1Rob/\Nodal⁺	involves: 129S/SvEv * 129X1/SvJ * C57BL/6	MGI:4830267
cx26	\Nodal^tm1Rob/\Nodal⁺ \Smad2^tm1.1Epb/\Smad2⁺	involves: 129S/SvEv * 129X1/SvJ * C57BL/6J * SJL	MGI:5791937
cx27	\Acvr1b^tm1Enl/\Acvr1b⁺ \Gdf1^tm1Sjl/\Gdf1⁺ \Nodal^tm1Rob/\Nodal⁺	involves: 129/Sv * C57BL/6	MGI:3625853

Allelic Composition	\Nodal^{tm1b(EUCOMM)Wtsi}/\Nodal⁺
Genetic Background	C57BL/6N-Nodal^{tm1b(EUCOMM)Wtsi}/H
Cell Lines	EPD0197_2_B12

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^{tm1b(EUCOMM)Wtsi} mutation (1 available); any Nodal mutation (41 available)

Data Sources

IMPC Data for Nodal

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

behavior/neurological

increased grip strength ( J:211773 )

IMPC - HAR

decreased locomotor activity ( J:211773 )

IMPC - HAR

cardiovascular system

cornea vascularization ( J:211773 )

IMPC - HAR

homeostasis/metabolism

increased circulating cholesterol level ( J:211773 )

IMPC - HAR

increased circulating HDL cholesterol level ( J:211773 )

IMPC - HAR

increased circulating triglyceride level ( J:211773 )

IMPC - HAR

vision/eye

cornea vascularization ( J:211773 )

IMPC - HAR

Allelic Composition	\Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

normal phenotype

no abnormal phenotype detected ( J:32935 )

Allelic Composition	\Nodal^tm1Rob/\Nodal⁺ \Edil3^{Tg(Sox2-cre)1Amc}/\Edil3⁺ \Tgif1^tm1Caw/\Tgif1^tm1Caw \Tgif2^tm1Dwot/\Tgif2^tm1Dwot
Genetic Background	involves: 129S/SvEv * C57BL/6 * C57BL/6J * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3^{Tg(Sox2-cre)1Amc} mutation (5 available); any Edil3 mutation (43 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)
Tgif1^tm1Caw mutation (1 available); any Tgif1 mutation (50 available)
Tgif2^tm1Dwot mutation (0 available); any Tgif2 mutation (40 available)

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

nervous system

abnormal embryonic neuroepithelium morphology ( J:183402 )

• reduced Nodal levels partially rescues ventral neurepithelium morphogenesis observed in double mutants with disorganized neuroepithelium

abnormal forebrain development ( J:183402 )

• reduced Nodal levels partially rescues ventral forebrain morphology observed in double mutants with less disorganization and larger size

• however, forebrain cell proliferation is restored

holoprosencephaly ( J:183402 )

• in mice that survive to E18.5

decreased forebrain size ( J:183402 )

• in two-thirds of mice

embryo

abnormal left-right axis patterning ( J:157256 )

• expression analysis suggests there are some mild defects in left right patterning

rostral body truncation ( J:183402 )

• severe anterior truncation in a small proportion of mice

embryonic growth retardation ( J:183402 )

• in 2 embryos with severe anterior truncation

abnormal embryonic neuroepithelium morphology ( J:183402 )

• reduced Nodal levels partially rescues ventral neurepithelium morphogenesis observed in double mutants with disorganized neuroepithelium

growth/size/body

embryonic growth retardation ( J:183402 )

• in 2 embryos with severe anterior truncation

cardiovascular system

cardiovascular system phenotype ( J:157256 )

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

Allelic Composition	\Eomes^tm1Rob/\Eomes⁺ \Nodal^tm1Rob/\Nodal⁺ \Edil3^{Tg(Sox2-cre)1Amc}/\Edil3⁺
Genetic Background	involves: 129S/SvEv * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Edil3^{Tg(Sox2-cre)1Amc} mutation (5 available); any Edil3 mutation (43 available)
Eomes^tm1Rob mutation (0 available); any Eomes mutation (42 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

mortality/aging

prenatal lethality ( J:131055 )

• severely affected embryos are not recovered

embryo

rostral body truncation ( J:131055 )

• embryos with anterior axis truncations are recovered at low frequency

Allelic Composition	\Nodal^tm1Rob/\Nodal⁺ \Zic2^Ku/\Zic2^Ku
Genetic Background	129S.Cg-Nodal^tm1Rob Zic2^Ku

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

embryo

rostral body truncation ( J:238567 )

• 78% of embryos present with moderate anterior truncation in which variable amounts of forebrain and/or midbrain are retained

Allelic Composition	\Nodal^tm2Rob/\Nodal⁺ \Zic2^Ku/\Zic2^Ku
Genetic Background	129S.Cg-Nodal^tm2Rob Zic2^Ku

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm2Rob mutation (0 available); any Nodal mutation (41 available)
Zic2^Ku mutation (4 available); any Zic2 mutation (41 available)

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

embryo

abnormal mesendoderm development ( J:238567 )

• axial mesendoderm loss

rostral body truncation ( J:238567 )

• 38% of embryos present with moderate or severe anterior truncation

Allelic Composition	\Nodal^tm1Hmd/\Nodal⁺ \Tg(Rr443-Lefty1,-lacZ)36Hmd/0
Genetic Background	either: (involves: 129S1/Sv * 129X1/SvJ * C57BL/6N) or (involves: 129S1/Sv * 129T2/SvEms * 129X1/SvJ)

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Hmd mutation (1 available); any Nodal mutation (41 available)
Tg(Rr443-Lefty1,-lacZ)36Hmd mutation (0 available)

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

cardiovascular system

abnormal cardiac outflow tract development ( J:82703 )

• positions of the great arteries are disorganized

right atrial isomerism ( J:82703 )

• both atria of heart resembles the right atrium

dextrocardia ( J:82703 )

• the apex of the heart is oriented to the right

growth/size/body

right-sided isomerism ( J:82703 )

• right isomerism of the heart and lungs

right atrial isomerism ( J:82703 )

• both atria of heart resembles the right atrium

right pulmonary isomerism ( J:82703 )

• 1/3 mice exhibit three lobes in the left lung and four lobes in the right lung, while the other 2/3 mice show typical right isomerism of the lung

embryo

abnormal left-right axis patterning ( J:82703 )

• left-right isomerism of some internal organs

hematopoietic system

small spleen ( J:82703 )

• spleen is positioned normally but is smaller in size

respiratory system

right pulmonary isomerism ( J:82703 )

• 1/3 mice exhibit three lobes in the left lung and four lobes in the right lung, while the other 2/3 mice show typical right isomerism of the lung

digestive/alimentary system

abnormal digestive system development ( J:82703 )

• gut looping is incomplete

liver/biliary system

abnormal liver morphology ( J:82703 )

• clefts in the medial lobes of the liver

immune system

small spleen ( J:82703 )

• spleen is positioned normally but is smaller in size

Allelic Composition	\Acvr1c^tm1Cfi/\Acvr1c⁺ \Gdf1^tm1Sjl/\Gdf1⁺ \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129 * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1c^tm1Cfi mutation (1 available); any Acvr1c mutation (38 available)
Gdf1^tm1Sjl mutation (1 available); any Gdf1 mutation (8 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

normal phenotype

no abnormal phenotype detected ( J:108723 )

Allelic Composition	\Dand5^tm1Belo/\Dand5^tm1Belo \Nodal^tm1.1Mku/\Nodal⁺
Genetic Background	involves: 129/Ola * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dand5^tm1Belo mutation (0 available); any Dand5 mutation (17 available)
Nodal^tm1.1Mku mutation (0 available); any Nodal mutation (41 available)

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

cardiovascular system

abnormal direction of heart looping ( J:93051 )

• 35% of compound mutant embryos display leftward or ventral heart looping

Allelic Composition	\Cer1^tm1Bhr/\Cer1^tm1Bhr \Lefty1^tm1Hmd/\Lefty1^tm1Hmd \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129P2/OlaHsd * 129S/SvEv * 129S7/SvEvBrd * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cer1^tm1Bhr mutation (0 available); any Cer1 mutation (9 available)
Lefty1^tm1Hmd mutation (1 available); any Lefty1 mutation (41 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

embryo

abnormal embryo development ( J:81339 )

• all triple mutant embryos at 7.5 dpc show morphological defects similar to or less severe than Cer1 Lefty1 double mutants

abnormal developmental patterning ( J:81339 )

abnormal embryonic tissue morphology ( J:81339 )

abnormal embryonic-extraembryonic boundary morphology ( J:81339 )

Allelic Composition	\Lefty2^tm1Hmd/\Lefty2^tm1Hmd \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129P2/OlaHsd * 129S/SvEv * C57BL/6Cr

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Lefty2^tm1Hmd mutation (1 available); any Lefty2 mutation (14 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

mortality/aging

embryonic lethality between implantation and somite formation, complete penetrance ( J:57907 )

• mice die during late gastrulation

embryo

abnormal embryo development ( J:57907 )

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

Allelic Composition	\Acvr1c^tm1Cfi/\Acvr1c^tm1Cfi \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129P2/OlaHsd * 129/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1c^tm1Cfi mutation (1 available); any Acvr1c mutation (38 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

mortality/aging

mortality/aging ( J:94135 )

N	• expected numbers of compound mutants are detected at weaning

Allelic Composition	\Nodal^tm1Rob/\Nodal⁺ \Nog^tm1Amc/\Nog^tm1Amc
Genetic Background	involves: 129S/SvEv * 129S1/Sv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)
Nog^tm1Amc mutation (3 available); any Nog 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 \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 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)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

nervous system

holoprosencephaly ( J:161524 )

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

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 )

• 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 first pharyngeal arch ( J:161524 )

• fused in 14 of 19 mice with 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

cardiovascular system

abnormal direction of heart looping ( J:161524 )

• cardiac laterality defects are seen in 5 mice

craniofacial

fused first pharyngeal arch ( J:161524 )

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

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

Allelic Composition	\Foxa2^tm1Jrt/\Foxa2⁺ \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Foxa2^tm1Jrt mutation (2 available); any Foxa2 mutation (28 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

embryo

abnormal direction of embryo turning ( J:32935 )

• in embryos with loss of left-right asymmetry in Nodal expression the direction of turning is randomized

delayed embryo turning ( J:32935 )

• seen in all embryos

growth/size/body

situs ambiguus ( J:32935 )

• in 7 of 10 mutants the positioning of the abdominal viscera and heart is abnormal

Allelic Composition	\Gdf1^tm1Sjl/\Gdf1^tm1Sjl \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf1^tm1Sjl mutation (1 available); any Gdf1 mutation (8 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

mortality/aging

embryonic lethality during organogenesis, incomplete penetrance ( J:108723 )

• fewer than expected mutants at E13.5

embryo

abnormal first pharyngeal arch morphology ( J:108723 )

• defects are seen in structures arising from the first but not the second branchial arch

fused first pharyngeal arch ( J:108723 )

• at E9.0, the first branchial arch is fused, lacking a midline division

abnormal mesendoderm development ( J:108723 )

• primitive streak elongation is normal but significant reduction in the number of axial mesendoderm cells is detected in about 50% of mutants

abnormal neural fold formation ( J:108723 )

• fail to develop anterior neural folds

abnormal neural plate morphology ( J:108723 )

• anterior defects only

absent notochord ( J:108723 )

• absent at E8.5 in the most severely affected embryos

truncated notochord ( J:108723 )

• at E9.0 expression of Shh, a marker of the notochord at this stage, is anteriorly truncated

absent prechordal plate ( J:108723 )

• the prechordal plate marker Gsc is significantly downregulated at the late headfold stage and the prechordal plate is absent in severely affected embryos

craniofacial

absent mandible ( J:108723 )

• severely affected embryos lack jaws, as shown by the absence of mandibles in skeleton preparations

abnormal first pharyngeal arch morphology ( J:108723 )

• defects are seen in structures arising from the first but not the second branchial arch

fused first pharyngeal arch ( J:108723 )

• at E9.0, the first branchial arch is fused, lacking a midline division

cleft upper lip ( J:108723 )

• seen in 68% of embryos at E13.5, associated with holoprosencephaly

absent tongue ( J:108723 )

• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue

nasal septum hypoplasia ( J:108723 )

• hypomorphic nasal septum resulting in a fused nasal cavity

nervous system

abnormal neural plate morphology ( J:108723 )

• anterior defects only

holoprosencephaly ( J:108723 )

• seen in 68% of embryos at E13.5, associated with gross rostral truncation and cleft lip

abnormal diencephalon morphology ( J:108723 )

• thickening of the diencephalon seen in embryos with holoprosencephaly

abnormal third ventricle morphology ( J:108723 )

• a recessed third ventricle that fails to expand ventrally is seen in embryos with holoprosencephaly

digestive/alimentary system

absent tongue ( J:108723 )

• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue

abnormal foregut morphology ( J:108723 )

• 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

nasal septum hypoplasia ( J:108723 )

• hypomorphic nasal septum resulting in a fused nasal cavity

skeleton

absent mandible ( J:108723 )

• severely affected embryos lack jaws, as shown by the absence of mandibles in skeleton preparations

growth/size/body

cleft upper lip ( J:108723 )

• seen in 68% of embryos at E13.5, associated with holoprosencephaly

absent tongue ( J:108723 )

• severely affected embryos lack the entire tongue while mildly affected embryos lack the distal portion of the tongue

nasal septum hypoplasia ( J:108723 )

• hypomorphic nasal septum resulting in a fused nasal cavity

Allelic Composition	\Acvr2a^tm1Hsch/\Acvr2a^tm1Hsch \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S1/Sv * C57BL/6J

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2a^tm1Hsch mutation (0 available); any Acvr2a mutation (38 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:57262 )

• embryonic lethality although time not specified

embryo

abnormal gastrulation ( J:57262 )

• over 60% show gastrulation defects

nervous system

decreased forebrain size ( J:57262 )

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

vision/eye

cyclopia ( J:57262 )

• 6 of 8 newborns display cyclopia

growth/size/body

abnormal head morphology ( J:57262 )

• 6 of 8 newborns show truncation of rostral head structures

Allelic Composition	\Nodal^tm1Rob/\Nodal⁺ \Trim33^tm1.2Los/\Trim33^tm1.2Los
Genetic Background	involves: 129S/SvEv * 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)
Trim33^tm1.2Los mutation (0 available); any Trim33 mutation (71 available)

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

embryo

embryo phenotype ( J:163858 )

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

expanded anterior visceral endoderm ( J:163858 )

• expanded at E6.25

Allelic Composition	\Smad2^tm1Enl/\Smad2⁺ \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S4/SvJae

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)
Smad2^tm1Enl mutation (0 available); any Smad2 mutation (52 available)

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

embryo

abnormal gastrulation ( J:48467 )

• at E9.5 11 of 20 embryos had gastrulation defects similar to those in Smad2 single heterozygotes

abnormal direction of embryo turning ( J:48467 )

• 3 of 20 turn in the opposite direction compared to wild-type mice

abnormal left-right axis patterning ( J:48467 )

• 32% (8 of 25) have defects in left-right patterning

rostral body truncation ( J:48467 )

• in the most severe cases the rostral head and eyes are truncated

abnormal lateral plate mesoderm morphology ( J:48467 )

• in affected embryos lateral plate mesoderm is restricted to the posterior region

cardiovascular system

abnormal heart looping ( J:48467 )

• 3 of 20 have abnormal heart looping

transposition of great arteries ( J:48467 )

• most common cardiac defect in embryos with left-right patterning abnormalities

growth/size/body

right pulmonary isomerism ( J:48467 )

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

craniofacial

abnormal craniofacial morphology ( J:48467 )

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

vision/eye

cyclopia ( J:48467 )

• present at E15.5 - E17.5 in 9 of 25

respiratory system

right pulmonary isomerism ( J:48467 )

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

Allelic Composition	\Drap1^tm1Mms/\Drap1^tm1Mms \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S6/SvEvTac

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Drap1^tm1Mms mutation (0 available); any Drap1 mutation (10 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:80667 )

• mutant embryos die by E9.5

embryo

abnormal gastrulation ( J:80667 )

• mutant embryos are partially rescued from the mesoderm defects observed in Drap1^tm1Mms homozygotes, but are still unable to complete gastrulation

abnormal primitive streak formation ( J:80667 )

• at E7.5 and E8.25, mutant embryos display a characteristic proximal bulge in the caudal primitive streak

Allelic Composition	\Eomes^tm1.1Rob/\Eomes⁺ \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S7/SvEvBrd * C57BL/6 * CBA

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Eomes^tm1.1Rob mutation (0 available); any Eomes mutation (42 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

embryo

abnormal anterior visceral endoderm cell migration ( J:131055 )

• AVE is correctly induced but fails to migrate anteriorly

abnormal developmental patterning ( J:131055 )

• heart patterning abnormalities are observed by E9.5 due to loss of midline structures

abnormal germ layer development ( J:131055 )

• embryos lack visible germ layers

abnormal left-right axis patterning ( J:131055 )

• left-right patterning abnormalities are observed by E9.5 due to loss of midline structures

abnormal rostral-caudal patterning of the somites ( J:131055 )

• floor plate expansion results in increased spacing between somite rows at E9.5

rostral body truncation ( J:131055 )

• by E9.5, mutants lack head structures rostral to the otic placodes

rostral-caudal axis duplication ( J:131055 )

• in the most severely affected embryos, relatively complete duplications of the posterior body axis are observed, including extra somite rows

enlarged floor plate ( J:131055 )

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

abnormal notochord morphology ( J:131055 )

• node duplications are accompanied by formation of an accessory notochord

abnormal primitive node morphology ( J:131055 )

• at E8.5, development of the node is severely disturbed in a subset of mutants

• complete node duplications are observed in some mutants

failure of primitive streak formation ( J:131055 )

• the most severely affected double heterozygotes show abnormalities around E7 and fail to form a primitive streak

increased somite number ( J:131055 )

• addition rows of somites are observed in the most severely affected embryos

disorganized embryonic tissue ( J:131055 )

• by late gastrulation stages, embryos are grossly disorganized

embryonic-extraembryonic boundary constriction ( J:131055 )

• the most severely affected embryos develop pronounced constrictions between the embryonic and extraembryonic regions of the conceptus

abnormal amniotic cavity morphology ( J:131055 )

• embryos frequently show tissue accumulation within the amniotic cavity

nervous system

enlarged floor plate ( J:131055 )

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

cellular

abnormal anterior visceral endoderm cell migration ( J:131055 )

• AVE is correctly induced but fails to migrate anteriorly

Allelic Composition	\Cer1^tm1Bhr/\Cer1^tm1Bhr \Lefty1^tm1Sla/\Lefty1^tm1Sla \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129S7/SvEvBrd * CD-1

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Cer1^tm1Bhr mutation (0 available); any Cer1 mutation (9 available)
Lefty1^tm1Sla mutation (0 available); any Lefty1 mutation (41 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

embryo

abnormal embryo development ( J:81339 )

• all triple mutant embryos at 7.5 dpc show morphological defects similar to or less severe than Cer1 Lefty1 double mutants

abnormal developmental patterning ( J:81339 )

abnormal embryonic tissue morphology ( J:81339 )

abnormal embryonic-extraembryonic boundary morphology ( J:81339 )

Allelic Composition	\Col2a1^tm1.1Ksec/\Col2a1^tm1.1Ksec \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Col2a1^tm1.1Ksec mutation (0 available); any Col2a1 mutation (70 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

growth/size/body

abnormal head morphology ( J:163739 )

• the frequency of head abnormalities is not significantly different from Col2a1^tm1.1Ksec single homozygotes

Allelic Composition	\Nodal^tm1Rob/\Nodal⁺ \Tgif1^tm1Dwot/\Tgif1^tm1Dwot \Tgif2^tm1Dwot/\Tgif2^tm1Dwot
Genetic Background	involves: 129S/SvEv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)
Tgif1^tm1Dwot mutation (0 available); any Tgif1 mutation (50 available)
Tgif2^tm1Dwot mutation (0 available); any Tgif2 mutation (40 available)

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

embryo

embryo phenotype ( J:157256 )

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

Allelic Composition	\Col2a1^tm1.1Ksec/\Col2a1⁺ \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129S/SvEv * 129X1/SvJ * C57BL/6

Find Mice

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

growth/size/body

abnormal head morphology ( J:163739 )

• the frequency of head abnormalities is not significantly different from Col2a1^tm1.1Ksec single heterozygotes

Allelic Composition	\Nodal^tm1Rob/\Nodal⁺ \Smad2^tm1.1Epb/\Smad2⁺
Genetic Background	involves: 129S/SvEv * 129X1/SvJ * C57BL/6J * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)
Smad2^tm1.1Epb mutation (1 available); any Smad2 mutation (52 available)

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

nervous system

holoprosencephaly ( J:183402 )

• in 1 of 41 mice between E10.5 and E12.5

embryo

embryonic growth retardation ( J:183402 )

• 15 of 41 mice exhibit anterior truncations or a severe growth delay

growth/size/body

abnormal olfactory epithelium morphology ( J:183402 )

• single field

proboscis ( J:183402 )

• in 1 of 41 mice between E10.5 and E12.5

embryonic growth retardation ( J:183402 )

• 15 of 41 mice exhibit anterior truncations or a severe growth delay

respiratory system

abnormal olfactory epithelium morphology ( J:183402 )

• single field

taste/olfaction

abnormal olfactory epithelium morphology ( J:183402 )

• single field

vision/eye

abnormal eye development ( J:183402 )

• partial failure to separate eyes in 1 of 41 mice between E10.5 and E12.5

craniofacial

abnormal olfactory epithelium morphology ( J:183402 )

• single field

proboscis ( J:183402 )

• in 1 of 41 mice between E10.5 and E12.5

Allelic Composition	\Acvr1b^tm1Enl/\Acvr1b⁺ \Gdf1^tm1Sjl/\Gdf1⁺ \Nodal^tm1Rob/\Nodal⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr1b^tm1Enl mutation (0 available); any Acvr1b mutation (37 available)
Gdf1^tm1Sjl mutation (1 available); any Gdf1 mutation (8 available)
Nodal^tm1Rob mutation (2 available); any Nodal mutation (41 available)

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

nervous system

abnormal forebrain morphology ( J:108723 )

• 3 of 19 mutants have a single forebrain vesicle

respiratory system

abnormal nasal septum morphology ( J:108723 )

• 3 of 19 mutants have a fused nasal cavity

craniofacial

abnormal nasal septum morphology ( J:108723 )

• 3 of 19 mutants have a fused nasal cavity

growth/size/body

abnormal nasal septum morphology ( J:108723 )

• 3 of 19 mutants have a fused nasal cavity

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