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Phenotypes Associated with This Genotype
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Gdf1tm1Sjl mutation (1 available); any Gdf1 mutation (2 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
• almost all die within 48 hours of birth
• survival is normal until E14.5 and about 1/3 of homozygotes die before birth

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

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

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

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

cardiovascular system
• persistent left vena cava
• seen in all homozygotes
• randomized position of the apex resulting in dextrocardia in some mutants
• common atrioventricular canal

immune system
• severely malformed

hematopoietic system
• severely malformed

respiratory system
• seen in all homozygotes

endocrine/exocrine glands

Mouse Models of Human Disease
OMIM ID Ref(s)
Pancreas, Annular 167750 J:60755

Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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last database update
MGI 6.01
The Jackson Laboratory