All Phenotypes Phc1<tm1Os> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phc1^tm1Os/Phc1^tm1Os	involves: 129S2/SvPas * C57BL/6	MGI:3042302
hm2	Phc1^tm1Os/Phc1^tm1Os	involves: 129/Sv * C57BL/6	MGI:3590553
cx3	Phc1^tm1Os/Phc1^tm1Os Tg(Myh7-Phc1)#Yota/0	involves: 129S2/SvPas * C57BL/6	MGI:5906060
cx4	Phc1^tm1Os/Phc1⁺ Phc2^tm1Hko/Phc2^tm1Hko	involves: 129/Sv * C57BL/6	MGI:3590551
cx5	Phc1^tm1Os/Phc1⁺ Phc2^tm1Hko/Phc2⁺	involves: 129/Sv * C57BL/6	MGI:3590552
cx6	Phc1^tm1Os/Phc1^tm1Os Phc2^tm1Hko/Phc2⁺	involves: 129/Sv * C57BL/6	MGI:3590550
cx7	Phc1^tm1Os/Phc1^tm1Os Phc2^tm1Hko/Phc2^tm1Hko	involves: 129/Sv * C57BL/6	MGI:3590549

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

Phc1^tm1Os/Phc1^tm1Os hearts show abnormal cardiac looping at E9.5

muscle

heart right ventricle hypertrophy ( J:43764 )

mortality/aging

perinatal lethality, complete penetrance ( J:43764 )

• 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

pulmonary trunk hypoplasia ( J:43764 )

• hypoplasia of the pulmonary trunk

abnormal cardiovascular development ( J:78065 )

abnormal cardiac outflow tract development ( J:78065 )

• truncus arteriosus and bulbus cordis are extremely deformed

abnormal heart morphology ( J:43764 )

• about 1/3 of hearts display characteristics of tetralogy of Fallot

heart right ventricle hypertrophy ( J:43764 )

abnormal heart looping ( J:78065 )

• incomplete looping of the heart tube seen at E9.5

abnormal bulbus cordis morphology ( J:78065 )

• bulbus cordis is extremely deformed

overriding aortic valve ( J:43764 )

• aorta straddles a large ventricular septal defect

ventricular septal defect ( J:43764 )

abnormal semilunar valve morphology ( J:43764 )

aortic valve stenosis ( J:43764 )

abnormal heart right ventricle outflow tract morphology ( J:43764 )

• stenosis of the right ventricular infundibulum

pulmonary valve stenosis ( J:43764 )

thin ventricular wall ( J:43764 )

• both ventricles have a thin myocardium

dilated heart ventricle ( J:43764 )

• both ventricles are dilated

craniofacial

small occipital bone ( J:43764 )

• reduced occipital bone

palatal shelves fail to meet at midline ( J:43764 )

cleft hard palate ( J:43764 )

• bilateral cleft of hard palate seen in 10 of 14 homozygotes

bilateral cleft palate ( J:43764 )

endocrine/exocrine glands

parathyroid hypoplasia ( J:43764 )

decreased thymus weight ( J:43764 )

• about half normal size

growth/size/body

heart right ventricle hypertrophy ( J:43764 )

palatal shelves fail to meet at midline ( J:43764 )

cleft hard palate ( J:43764 )

• bilateral cleft of hard palate seen in 10 of 14 homozygotes

bilateral cleft palate ( J:43764 )

decreased body size ( J:43764 )

• homozygotes are smaller in size than normal littermates

hematopoietic system

decreased thymus weight ( J:43764 )

• about half normal size

abnormal B cell differentiation ( J:75707 )

• B cells are reduced resulting in an overall reduction of lymphoid lineages in peripheral blood

extramedullary hematopoiesis ( J:75707 )

• 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

impaired hematopoiesis ( J:75707 )

• hematopoietic cell expansion normal until around E14.5 after which it declines

abnormal hematopoietic stem cell morphology ( J:75707 )

• hematopoietic stem cells are unable to enhance survival by repopulating lethally irradiated recipients

decreased spleen weight ( J:43764 )

• about half normal size

immune system

decreased thymus weight ( J:43764 )

• about half normal size

abnormal B cell differentiation ( J:75707 )

• B cells are reduced resulting in an overall reduction of lymphoid lineages in peripheral blood

decreased spleen weight ( J:43764 )

• about half normal size

skeleton

small occipital bone ( J:43764 )

• reduced occipital bone

abnormal sternum morphology ( J:43764 )

• sternal defects including loss of the fifth ossification point

abnormal vertebrae morphology ( J:43764 )

cervical vertebral fusion ( J:43764 )

• C1 and C2 are frequently fused

cervical vertebral transformation ( J:43764 )

• C7 takes the form of T1

lumbar vertebral transformation ( J:43764 )

• L6 takes the form of S1

vision/eye

abnormal optic cup morphology ( J:43764 )

• 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

palatal shelves fail to meet at midline ( J:43764 )

cleft hard palate ( J:43764 )

• bilateral cleft of hard palate seen in 10 of 14 homozygotes

bilateral cleft palate ( J:43764 )

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

Allelic Composition	Phc1^tm1Os/Phc1^tm1Os
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc1^tm1Os mutation (1 available); any Phc1 mutation (72 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:100027 )

• mutants are alive at E17.5 but do not survive birth

craniofacial

abnormal occipital bone morphology ( J:100027 )

• an ectopic arch is associated with the occipital bones

abnormal sphenoid bone morphology ( J:100027 )

• the sphenoid is partially split

abnormal presphenoid bone morphology ( J:100027 )

• the center of the presphenoid is not ossified

cleft secondary palate ( J:100027 )

skeleton

abnormal occipital bone morphology ( J:100027 )

• an ectopic arch is associated with the occipital bones

abnormal sphenoid bone morphology ( J:100027 )

• the sphenoid is partially split

abnormal presphenoid bone morphology ( J:100027 )

• the center of the presphenoid is not ossified

abnormal vertebrae morphology ( J:100027 )

• changes in the vertebral column are similar to those in Phc2^tm1Hko

digestive/alimentary system

cleft secondary palate ( J:100027 )

growth/size/body

cleft secondary palate ( J:100027 )

Allelic Composition	Phc1^tm1Os/Phc1^tm1Os Tg(Myh7-Phc1)#Yota/0
Genetic Background	involves: 129S2/SvPas * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc1^tm1Os mutation (1 available); any Phc1 mutation (72 available)
Tg(Myh7-Phc1)#Yota mutation (0 available)

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

cardiovascular system

abnormal cardiovascular system morphology ( J:75968 )

• mice exhibit cardiac abnormalities similar to that of single Phc1 homozygous mutants

abnormal heart morphology ( J:75968 )

• tetralogy of Fallot

atrial septal defect ( J:75968 )

ventricular septal defect ( J:75968 )

• membranous or muscular ventricular septal defects

Allelic Composition	Phc1^tm1Os/Phc1⁺ Phc2^tm1Hko/Phc2^tm1Hko
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc1^tm1Os mutation (1 available); any Phc1 mutation (72 available)
Phc2^tm1Hko mutation (1 available); any Phc2 mutation (83 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:100027 )

• mutants are alive at E17.5 but do not survive birth

skeleton

abnormal skeleton morphology ( J:100027 )

• skeletal defects are more severe than in mice homozygous for Phc2 only

abnormal occipital bone morphology ( J:100027 )

• the dorsal part of the occipital bone is floating

scapular bone foramen ( J:100027 )

• there is a hole in the scapula

abnormal sternocostal joint morphology ( J:100027 )

• the 6th ribs are detached from the sternum

abnormal cervical vertebrae morphology ( J:100027 )

• anterior processes are associated with the 5th cervical vertebra (C5)

craniofacial

abnormal occipital bone morphology ( J:100027 )

• the dorsal part of the occipital bone is floating

cleft secondary palate ( J:100027 )

digestive/alimentary system

cleft secondary palate ( J:100027 )

growth/size/body

cleft secondary palate ( J:100027 )

Allelic Composition	Phc1^tm1Os/Phc1⁺ Phc2^tm1Hko/Phc2⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

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

skeleton

abnormal axial skeleton morphology ( J:100027 )

• posterior transformations are seen in all double heterozygotes

Allelic Composition	Phc1^tm1Os/Phc1^tm1Os Phc2^tm1Hko/Phc2⁺
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

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

mortality/aging

perinatal lethality, complete penetrance ( J:100027 )

• mutants are alive at E17.5 but do not survive birth

skeleton

abnormal skeleton morphology ( J:100027 )

• skeletal defects are more severe than in mice homozygous for Phc1 only

abnormal exoccipital bone morphology ( J:100027 )

• segmentation of the exoccipital bone

absent presphenoid bone ( J:100027 )

• the presphenoid bone is absent

scapular bone foramen ( J:100027 )

• there is a hole in the scapula

abnormal sternocostal joint morphology ( J:100027 )

• the 6th ribs are detached from the sternum

abnormal cervical vertebrae morphology ( J:100027 )

• anterior processes are associated with the 5th cervical vertebra (C5)

hearing/vestibular/ear

abnormal tympanic ring morphology ( J:100027 )

• the caudal half of the tympanic bone is absent

craniofacial

abnormal exoccipital bone morphology ( J:100027 )

• segmentation of the exoccipital bone

absent presphenoid bone ( J:100027 )

• the presphenoid bone is absent

cleft secondary palate ( J:100027 )

digestive/alimentary system

cleft secondary palate ( J:100027 )

growth/size/body

cleft secondary palate ( J:100027 )

Allelic Composition	Phc1^tm1Os/Phc1^tm1Os Phc2^tm1Hko/Phc2^tm1Hko
Genetic Background	involves: 129/Sv * C57BL/6

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:100027 )

• double homozygotes are lost in a progressive manner starting around E9.5

embryo

abnormal first pharyngeal arch morphology ( J:100027 )

• at E9.5 the first branchial arches are poorly developed

abnormal second pharyngeal arch morphology ( J:100027 )

• at E9.5 the second branchial arches are poorly developed

embryonic growth retardation ( J:100027 )

• after E8.5 double homozygous embryos become progressively growth retarded

incomplete somite formation ( J:100027 )

• at E9.5 only about 20 somites are present compared to 25 in littermates

small tail bud ( J:100027 )

• the tail bud is smaller

growth/size/body

embryonic growth retardation ( J:100027 )

• after E8.5 double homozygous embryos become progressively growth retarded

limbs/digits/tail

small tail bud ( J:100027 )

• the tail bud is smaller

craniofacial

abnormal first pharyngeal arch morphology ( J:100027 )

• at E9.5 the first branchial arches are poorly developed

abnormal second pharyngeal arch morphology ( J:100027 )

• at E9.5 the second branchial arches are poorly developed

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