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Phenotypes Associated with This Genotype
Genotype
MGI:3042302
Allelic
Composition
Phc1tm1Os/Phc1tm1Os
Genetic
Background
involves: 129S2/SvPas * C57BL/6
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc1tm1Os mutation (1 available); any Phc1 mutation (34 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

Phc1tm1Os/Phc1tm1Os hearts show abnormal cardiac looping at E9.5

muscle

mortality/aging
• expected ratio of homozygotes through E17.5
• reduced proportion of homozygotes at birth (15 out of 146 newborns)
• 2 born dead and 7 cyanotic at birth
• remaining homozygotes became cyanotic and died within a few hours of birth

cardiovascular system
• hypoplasia of the pulmonary trunk
• truncus arteriosus and bulbus cordis are extremely deformed
• about 1/3 of hearts display characteristics of tetralogy of Fallot
• incomplete looping of the heart tube seen at E9.5
• bulbus cordis is extremely deformed
• aorta straddles a large ventricular septal defect
• stenosis of the right ventricular infundibulum
• both ventricles have a thin myocardium
• both ventricles are dilated

craniofacial
• reduced occipital bone
• bilateral cleft of hard palate seen in 10 of 14 homozygotes

endocrine/exocrine glands
• about half normal size

growth/size/body
• bilateral cleft of hard palate seen in 10 of 14 homozygotes
• homozygotes are smaller in size than normal littermates

hematopoietic system
• about half normal size
• B cells are reduced resulting in an overall reduction of lymphoid lineages in peripheral blood
• nucleated cells in the spleen are reduced to about 12.5% of normal
• at E12.5 the numbers of spleen precursor cells are significantly reduced
• hematopoietic cell expansion normal until around E14.5 after which it declines
• hematopoietic stem cells are unable to enhance survival by repopulating lethally irradiated recipients
• about half normal size

immune system
• about half normal size
• B cells are reduced resulting in an overall reduction of lymphoid lineages in peripheral blood
• about half normal size

skeleton
• reduced occipital bone
• sternal defects including loss of the fifth ossification point
• C1 and C2 are frequently fused
• C7 takes the form of T1
• L6 takes the form of S1

vision/eye
• variable abnormalities include the absence or hypoplasia of the optic cup, with the abnormalities often more severe in the right optic cup than the left optic cup
• when present, abnormal rotations of the optic cups are sometimes seen
• the optic cups of the 12.5 d.p.c. embryos are significantly smaller in the homozygotes

digestive/alimentary system
• bilateral cleft of hard palate seen in 10 of 14 homozygotes

Mouse Models of Human Disease
DO ID OMIM ID(s) Ref(s)
tetralogy of Fallot DOID:6419 OMIM:187500
J:43764


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
02/12/2019
MGI 6.13
The Jackson Laboratory