Phenotypes associated with this allele

• Allele Symbol: Gdf1^tm1Sjl
• Allele Name: targeted mutation 1, Se-Jin Lee
• Allele ID: MGI:2181719
• Summary: 9 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Gdf1^tm1Sjl/Gdf1^tm1Sjl	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3625848
cx2	Acvr1c^tm1Cfi/Acvr1c^+ Gdf1^tm1Sjl/Gdf1^+ Nodal^tm1Rob/Nodal^+	involves: 129 * C57BL/6	MGI:3625850
cx3	Acvr1b^tm1Enl/Acvr1b^+ Gdf1^tm1Sjl/Gdf1^+ Nodal^tm1Rob/Nodal^+	involves: 129/Sv * C57BL/6	MGI:3625853
cx4	Gdf1^tm1Sjl/Gdf1^+ Gdf3^Gt(AD0857)Wtsi/Gdf3^Gt(AD0857)Wtsi	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3764837
cx5	Gdf1^tm1Sjl/Gdf1^+ Gdf3^Gt(AD0857)Wtsi/Gdf3^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3764838
cx6	Gdf1^tm1Sjl/Gdf1^tm1Sjl Gdf3^Gt(AD0857)Wtsi/Gdf3^+	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3764839
cx7	Gdf1^tm1Sjl/Gdf1^tm1Sjl Gdf3^Gt(AD0857)Wtsi/Gdf3^Gt(AD0857)Wtsi	involves: 129P2/OlaHsd * C57BL/6	MGI:3764836
cx8	Gdf1^tm1Sjl/Gdf1^tm1Sjl Nodal^tm1Rob/Nodal^+	involves: 129S/SvEv * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3625849
cx9	Acvr1b^tm1Enl/Acvr1b^+ Gdf1^tm1Sjl/Gdf1^tm1Sjl	involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6	MGI:3625854

Genotype
MGI:3625848

hm1

• Allelic Composition: Gdf1^tm1Sjl/Gdf1^tm1Sjl
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:60755 )

• almost all die within 48 hours of birth

lethality throughout fetal growth and development, incomplete penetrance ( J:60755 )

• survival is normal until E14.5 and about 1/3 of homozygotes die before birth

embryo

abnormal left-right axis patterning ( J:60755 )

• abnormal left-right patterning of the lungs, liver stomach, intestines, spleen, pancreas, kidneys, adrenal glands, heart, and great vessels

growth/size/body

right pulmonary isomerism ( J:60755 )

• seen in all homozygotes

situs inversus ( J:60755 )

• about 50% have right-sided stomach, pancreas, and spleen and reversed rotational direction of the intestines

liver/biliary system

abnormal liver morphology ( J:60755 )

• liver lobes display reversed left-right asymmetry or are bilaterally symmetrical with 2 equal sized lobes beneath a fused medial lobe

renal/urinary system

abnormal kidney morphology ( J:60755 )

• the left kidney and adrenal gland are positioned either more cranially or at the same rostral caudal level as the right kidney

cardiovascular system

abnormal vena cava morphology ( J:60755 )

• persistent left vena cava

transposition of great arteries ( J:60755 )

• seen in all homozygotes

atrial septal defect ( J:60755 )

dextrocardia ( J:60755 )

• randomized position of the apex resulting in dextrocardia in some mutants

complete atrioventricular septal defect ( J:60755 )

• common atrioventricular canal

ventricular septal defect ( J:60755 )

immune system

abnormal spleen morphology ( J:60755 )

• severely malformed

hematopoietic system

abnormal spleen morphology ( J:60755 )

• severely malformed

respiratory system

right pulmonary isomerism ( J:60755 )

• seen in all homozygotes

endocrine/exocrine glands

annular pancreas ( J:60755 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
annular pancreas		DOID:0060850	OMIM:167750	J:60755

Genotype
MGI:3625850

cx2

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

normal phenotype

no abnormal phenotype detected ( J:108723 )

Genotype
MGI:3625853

cx3

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

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

Genotype
MGI:3764837

cx4

• Allelic Composition: Gdf1^tm1Sjl/Gdf1⁺; Gdf3^{Gt(AD0857)Wtsi}/Gdf3^{Gt(AD0857)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

mortality/aging

decreased survivor rate ( J:127541 )

• 50% of mice survive into adulthood

embryonic lethality between implantation and somite formation, incomplete penetrance ( J:127541 )

• 50% of embryos die by this stage with the remaining 50% surviving into adulthood

embryo

abnormal anterior visceral endoderm cell migration ( J:127541 )

• 30% of E6.5 embryos develop AVE distally but the tissue fails to migrate to the anterior side of the pregastrulation embryo

absent mesoderm ( J:127541 )

• 18% of E7.5 embryos lack a mesoderm as determined by an absence of FoxA2 staining

abnormal primitive streak formation ( J:127541 )

• 30% of E7.5 embryos display defects in primitive streak elongation with some embryos displaying two primitive streaks

abnormal primitive streak elongation ( J:127541 )

• 30% of E7.5 embryos display defects in primitive streak elongation

absent anterior visceral endoderm ( J:127541 )

• 15% of E6.5 embryos fail to develop the anterior visceral endoderm (AVE)

cellular

abnormal anterior visceral endoderm cell migration ( J:127541 )

• 30% of E6.5 embryos develop AVE distally but the tissue fails to migrate to the anterior side of the pregastrulation embryo

Genotype
MGI:3764838

cx5

• Allelic Composition: Gdf1^tm1Sjl/Gdf1⁺; Gdf3^{Gt(AD0857)Wtsi}/Gdf3⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:127541 )

Genotype
MGI:3764839

cx6

• Allelic Composition: Gdf1^tm1Sjl/Gdf1^tm1Sjl; Gdf3^{Gt(AD0857)Wtsi}/Gdf3⁺
• Genetic Background: involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:127541 )

Genotype
MGI:3764836

cx7

• Allelic Composition: Gdf1^tm1Sjl/Gdf1^tm1Sjl; Gdf3^{Gt(AD0857)Wtsi}/Gdf3^{Gt(AD0857)Wtsi}
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6

mortality/aging

decreased survivor rate ( J:127541 )

• 50% of mice survive into adulthood

embryonic lethality between implantation and somite formation, incomplete penetrance ( J:127541 )

• 50% of embryos die by this stage with the remaining 50% surviving until adulthood

embryo

absent mesoderm ( J:127541 )

• 47% of E7.5 embryos lack a mesoderm as determined by an absence of FoxA2 staining

abnormal primitive streak formation ( J:127541 )

• 26% of E7.5 embryos display defects in primitive streak elongation with some embryos displaying two primitive streaks

abnormal primitive streak elongation ( J:127541 )

• 26% of E7.5 embryos display defects in primitive streak elongation

absent anterior visceral endoderm ( J:127541 )

• 38% of E6.5 embryos fail to develop the anterior visceral endoderm (AVE)

Genotype
MGI:3625849

cx8

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

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

Genotype
MGI:3625854

cx9

• Allelic Composition: Acvr1b^tm1Enl/Acvr1b⁺; Gdf1^tm1Sjl/Gdf1^tm1Sjl
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae * 129X1/SvJ * C57BL/6

embryo

rostral body truncation ( J:108723 )

• anterior truncations seen in 3 of 9 mutants

abnormal primitive streak formation ( J:108723 )

• ecreased expression of Foxa2 in the anterior primitive streak in all mutants and decreased expression of T in the axial mesoderm in 30% of mutants

nervous system

holoprosencephaly ( J:108723 )

• in 3 of 9 mutants