Phenotypes Associated with This Genotype

Genotype
MGI:3625848

• 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