Mouse Genome Informatics
hm
    Gdf1tm1Sjl/Gdf1tm1Sjl
involves: 129S1/Sv * 129X1/SvJ * C57BL/6
Key:
phenotype observed in females WTSI Wellcome Trust Sanger Institute
phenotype observed in males EuPh Europhenome
N normal phenotype
       
mortality/aging
• almost all die within 48 hours of birth
• survival is normal until E14.5 and about 1/3 of homozygotes die before birth

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

growth/size
• 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 IDRef(s)
Pancreas, Annular 167750 J:60755