All Phenotypes Pcgf2<tm1Hko> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Pcgf2^tm1Hko
targeted mutation 1, Haruhiko Koseki
MGI:1857633

Summary

11 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pcgf2^tm1Hko/Pcgf2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:2653494
hm2	Pcgf2^tm1Hko/Pcgf2^tm1Hko	involves: BALB/c * C57BL/6	MGI:2653495
ht3	Pcgf2^tm1Hko/Pcgf2⁺	involves: C57BL/6	MGI:3574651
cx4	Pcgf2^tm1Hko/Pcgf2^tm1Hko Bmi1^tm1Brn/Bmi1⁺	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3577617
cx5	Pcgf2^tm1Hko/Pcgf2⁺ Bmi1^tm1Brn/Bmi1^tm1Brn	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3577618
cx6	Pcgf2^tm1Hko/Pcgf2^tm1Hko Bmi1^tm1Brn/Bmi1^tm1Brn	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3577619
cx7	Pcgf2^tm1Hko/Pcgf2^tm1Hko Phc2^tm1Hko/Phc2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ	MGI:4946509
cx8	Pcgf2^tm1Hko/Pcgf2^tm1Hko Rnf2^tm1Hko/Rnf2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3039284
cx9	Pcgf2^tm1Hko/Pcgf2^tm1Hko Phc2^tm1Hko/Phc2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3590548
cx10	Mtf2^tm1.1Hko/Mtf2^tm1.1Hko Pcgf2^tm1Hko/Pcgf2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4946506
cx11	Pcgf2^tm1Hko/Pcgf2⁺ Sf3b1^tm1Hko/Sf3b1⁺	involves: C57BL/6	MGI:3574652

Allelic Composition	Pcgf2^tm1Hko/Pcgf2^tm1Hko
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)

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

mortality/aging

premature death ( J:33159 )

• seen in a mixed background, effects become more severe as the C57BL/6 component to background increased

• most died between 3 and 6 weeks of age

perinatal lethality, incomplete penetrance ( J:79851 )

• seen after extensive backcrossing to C57BL/6 when effects become more severe

• die at or before birth

craniofacial

abnormal occipital bone morphology ( J:79851 )

• seen after extensive backcrossing to C57BL/6 when effects become more severe

• ectopic arches in the occipital bone

abnormal exoccipital bone morphology ( J:33159 )

• seen in a mixed background, effects changed as the C57BL/6 component to background increased

• an extra bone found dorsaorostral to the atlas occasionally became fused to the exoccipital bone

abnormal supraoccipital bone morphology ( J:33159 )

• most caudal part of the supraoccipital bone is lost

growth/size/body

postnatal growth retardation ( J:33159 )

• beginning within the first week

• by the end of 2 weeks, body weight was 1/3 normal

• Background Sensitivity: seen in a mixed background, effects become more severe as the C57BL/6 component to background increased

skeleton

abnormal axial skeleton morphology ( J:33159 )

abnormal occipital bone morphology ( J:79851 )

• seen after extensive backcrossing to C57BL/6 when effects become more severe

• ectopic arches in the occipital bone

abnormal exoccipital bone morphology ( J:33159 )

• seen in a mixed background, effects changed as the C57BL/6 component to background increased

• an extra bone found dorsaorostral to the atlas occasionally became fused to the exoccipital bone

abnormal supraoccipital bone morphology ( J:33159 )

• most caudal part of the supraoccipital bone is lost

abnormal sternocostal joint morphology ( J:33159 )

• rib 6 is the last to attach to the sternum

abnormal rib morphology ( J:33159 , J:79851 )

• C7 ectopic rib becomes less common as C57BL/6 increases in genetic background (J:79851)

rib fusion ( J:33159 )

• cervical rib of C7 fuses to T1

abnormal odontoid process morphology ( J:33159 )

• odontoid attaches to the atlas rather than the axis

vertebral transformation ( J:33159 )

thoracic vertebral transformation ( J:33159 )

• T13 has the characteristics of L1

cervical vertebral transformation ( J:33159 )

• atlas looks much like the axis and axis has the appearance of C3

lumbar vertebral transformation ( J:33159 )

• L6 becomes S1

sacral vertebral transformation ( J:33159 )

• S4 becomes caudal vertebra 1

abnormal sternum ossification ( J:33159 )

• additional ossification at the cranial end of the sternum

Allelic Composition	Pcgf2^tm1Hko/Pcgf2^tm1Hko
Genetic Background	involves: BALB/c * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)

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

hematopoietic system

decreased lymphocyte cell number ( J:71268 )

• 30-50% reduction in splenocytes

decreased thymocyte number ( J:71268 )

• thymocyte numbers reduced 5-10%

abnormal T-helper 2 physiology ( J:71268 )

• impaired Th2 differentiation and responses

• reduced IgG1 and Il4 production

immune system

decreased lymphocyte cell number ( J:71268 )

• 30-50% reduction in splenocytes

decreased thymocyte number ( J:71268 )

• thymocyte numbers reduced 5-10%

abnormal T-helper 2 physiology ( J:71268 )

• impaired Th2 differentiation and responses

• reduced IgG1 and Il4 production

endocrine/exocrine glands

decreased thymocyte number ( J:71268 )

• thymocyte numbers reduced 5-10%

Allelic Composition	Pcgf2^tm1Hko/Pcgf2⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)

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

skeleton

thoracic vertebral transformation ( J:96358 )

• 11% exhibit T1 to T2 transformation

• 28% exhibit T13 to L1 transformation

cervical vertebral transformation ( J:96358 )

• 6% exhibit C7 to T1 transformation

lumbar vertebral transformation ( J:96358 )

• 89% exhibit L6 to S1 transformation compared to 62% in wildtype

Allelic Composition	Pcgf2^tm1Hko/Pcgf2^tm1Hko Bmi1^tm1Brn/Bmi1⁺
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Bmi1^tm1Brn mutation (2 available); any Bmi1 mutation (31 available)
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)

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

craniofacial

abnormal craniofacial bone morphology ( J:68216 )

split exoccipital bone ( J:68216 )

cleft secondary palate ( J:68216 )

skeleton

abnormal scapula morphology ( J:68216 )

acromion hypoplasia ( J:68216 )

• acromion is poorly formed

scapular bone foramen ( J:68216 )

• holes are seen in the blade of the scapula

abnormal axial skeleton morphology ( J:68216 )

abnormal craniofacial bone morphology ( J:68216 )

split exoccipital bone ( J:68216 )

abnormal rib joint morphology ( J:68216 )

• rudimentary ribs attached to C6

abnormal cervical atlas morphology ( J:68216 )

• atlas resembles the third cervical vertebra

cervical vertebral transformation ( J:68216 )

• atlas resembles the third cervical vertebra

abnormal sternum ossification ( J:68216 )

• ectopic ossification centers in sternum

digestive/alimentary system

cleft secondary palate ( J:68216 )

growth/size/body

cleft secondary palate ( J:68216 )

Allelic Composition	Pcgf2^tm1Hko/Pcgf2⁺ Bmi1^tm1Brn/Bmi1^tm1Brn
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

craniofacial

abnormal craniofacial bone morphology ( J:68216 )

split exoccipital bone ( J:68216 )

cleft secondary palate ( J:68216 )

skeleton

abnormal scapula morphology ( J:68216 )

acromion hypoplasia ( J:68216 )

• acromion is poorly formed

scapular bone foramen ( J:68216 )

• holes are seen in the blade of the scapula

abnormal axial skeleton morphology ( J:68216 )

abnormal craniofacial bone morphology ( J:68216 )

split exoccipital bone ( J:68216 )

abnormal rib joint morphology ( J:68216 )

• rudimentary ribs attached to C6

abnormal cervical atlas morphology ( J:68216 )

• atlas resembles the third cervical vertebra

cervical vertebral transformation ( J:68216 )

• atlas resembles the third cervical vertebra

abnormal sternum ossification ( J:68216 )

• ectopic ossification centers in sternum

digestive/alimentary system

cleft secondary palate ( J:68216 )

growth/size/body

cleft secondary palate ( J:68216 )

Allelic Composition	Pcgf2^tm1Hko/Pcgf2^tm1Hko Bmi1^tm1Brn/Bmi1^tm1Brn
Genetic Background	involves: 129P2/OlaHsd * 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:68216 )

• double homozygotes die around E9.5

cardiovascular system

abnormal dorsal aorta morphology ( J:68216 )

• dorsal aorta is expanded in the caudal region

embryo

abnormal first pharyngeal arch morphology ( J:68216 )

• first branchial arches were poorly developed

abnormal second pharyngeal arch morphology ( J:68216 )

• second branchial arches were poorly developed

embryonic growth arrest ( J:68216 )

• development was normal at E8.5 but mice were severely growth retarded at E9.5

abnormal somatic mesoderm morphology ( J:68216 )

• somatic mesoderm was appropriately segmented but irregularly aligned

abnormal neural tube morphology ( J:68216 )

• neural tube is small

• cell to cell adhesion is impaired in the neural tube

abnormal notochord morphology ( J:68216 )

• fusion with hindgut endoderm seen

small notochord ( J:68216 )

• reduced

split notochord ( J:68216 )

• bifurcated

abnormal somite development ( J:68216 )

• 18 as opposed to the normal 24 somites at E9.5

abnormal tail bud morphology ( J:68216 )

• distal tip of the tail bud is shrunken

nervous system

increased neural tube apoptosis ( J:68216 )

• apoptosis is seen in the neural tube

abnormal neural tube morphology ( J:68216 )

• neural tube is small

• cell to cell adhesion is impaired in the neural tube

abnormal brain morphology ( J:68216 )

hindbrain hypoplasia ( J:68216 )

• hindbrain is underdeveloped

skeleton

abnormal cervical atlas morphology ( J:68216 )

• atlas resembles the third cervical vertebra

cervical vertebral transformation ( J:68216 )

• atlas resembles the third cervical vertebra

craniofacial

abnormal first pharyngeal arch morphology ( J:68216 )

• first branchial arches were poorly developed

abnormal second pharyngeal arch morphology ( J:68216 )

• second branchial arches were poorly developed

limbs/digits/tail

abnormal tail bud morphology ( J:68216 )

• distal tip of the tail bud is shrunken

vision/eye

abnormal optic eminence morphology ( J:68216 )

• optic eminence was obscure

cellular

increased neural tube apoptosis ( J:68216 )

• apoptosis is seen in the neural tube

Allelic Composition	Pcgf2^tm1Hko/Pcgf2^tm1Hko Phc2^tm1Hko/Phc2^tm1Hko
Genetic Background	involves: 129S1/Sv * 129X1/SvJ

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)
Phc2^tm1Hko mutation (1 available); any Phc2 mutation (83 available)

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

mortality/aging

prenatal lethality, complete penetrance ( J:170279 )

• mice exhibit late-gestational lethality

skeleton

abnormal skeleton morphology ( J:170279 )

Allelic Composition	Pcgf2^tm1Hko/Pcgf2^tm1Hko Rnf2^tm1Hko/Rnf2^tm1Hko
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)
Rnf2^tm1Hko mutation (1 available); any Rnf2 mutation (36 available)

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

skeleton

skeleton phenotype ( J:79851 )

N	• phenotypes of double homozygotes were identical to those of mice homozygous for Rnf110^tm1Hko only except as indicated

asymmetric sternocostal joints ( J:79851 )

• unilateral or bilateral rib 7 attachment to the sternum in some instances

• if rib 7 does not attach to the sternum, no vertebral abnormalities occur from the lower thoracic region posteriorly

abnormal vertebrae morphology ( J:79851 )

• if bilateral attachment of rib 7 to the sternum occurs, only the thoracolumbar transition is abnormal

• if the last rib to attach to the sternum on either side is rib 6, the occipital, cervical and cervical to thoracic abnormalities persist but vertebrae are normal from the lower thoracic region posteriorly

Allelic Composition	Pcgf2^tm1Hko/Pcgf2^tm1Hko Phc2^tm1Hko/Phc2^tm1Hko
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

mortality/aging

perinatal lethality, complete penetrance ( J:100027 )

• double homozygotes die around E18.5

skeleton

abnormal skeleton morphology ( J:100027 )

• skeletal defects are more severe than in either single homozygote; however, heterozygous loss of one gene and homozygous loss of the other does not increase the severity of the single homozygous phenotype

abnormal occipital bone morphology ( J:100027 )

• the occipital bones are segmented to form an ectopic arch

abnormal basioccipital bone morphology ( J:100027 )

• the basioccipital bone is not completely segmented

abnormal hyoid bone morphology ( J:100027 )

• the upper horn of the hyoid bone is fused to the styloid process

abnormal thoracic cage morphology ( J:100027 )

• the entire rib cage is shifted anteriorly

abnormal bone ossification ( J:100027 )

• the middle parts of the skull base and scapula fail to undergo cartilaginous condensation

craniofacial

abnormal occipital bone morphology ( J:100027 )

• the occipital bones are segmented to form an ectopic arch

abnormal basioccipital bone morphology ( J:100027 )

• the basioccipital bone is not completely segmented

abnormal hyoid bone morphology ( J:100027 )

• the upper horn of the hyoid bone is fused to the styloid process

Allelic Composition	Mtf2^tm1.1Hko/Mtf2^tm1.1Hko Pcgf2^tm1Hko/Pcgf2^tm1Hko
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtf2^tm1.1Hko mutation (0 available); any Mtf2 mutation (314 available)
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)

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

mortality/aging

perinatal lethality, complete penetrance ( J:170279 )

• no mice are observed at the perinatal stage

skeleton

abnormal occipital bone morphology ( J:170279 )

• segmented, forming an ectopic arch

abnormal supraoccipital bone morphology ( J:170279 )

• 90% of mice exhibit supraoccipital bone to C1 transformation

scapular bone foramen ( J:170279 )

increased rib number ( J:170279 )

• C7 forms perfect ribs

vertebral transformation ( J:170279 )

• at E16.5, homeotic transformations are more stringent than in single homozygotes

thoracic vertebral transformation ( J:170279 )

• 70% of mice exhibit T8 to T9 transformation

• 90% of mice exhibit T13 to L1 transformation

cervical vertebral transformation ( J:170279 )

• C1 is identical to C2 unlike in wild-type mice

• C7 forms perfect ribs

• 70% of mice exhibit C2 to C3 transformation

lumbar vertebral transformation ( J:170279 )

• 100% of mice exhibit L6 to S1 transforamtion

craniofacial

abnormal occipital bone morphology ( J:170279 )

• segmented, forming an ectopic arch

abnormal supraoccipital bone morphology ( J:170279 )

• 90% of mice exhibit supraoccipital bone to C1 transformation

Allelic Composition	Pcgf2^tm1Hko/Pcgf2⁺ Sf3b1^tm1Hko/Sf3b1⁺
Genetic Background	involves: C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pcgf2^tm1Hko mutation (2 available); any Pcgf2 mutation (48 available)
Sf3b1^tm1Hko mutation (1 available); any Sf3b1 mutation (74 available)

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

skeleton

abnormal sternocostal joint morphology ( J:96358 )

• the detachment of the ribs of T7 from the sternum, representing an anterior shift of the sternum of one segment width

vertebral transformation ( J:96358 )

thoracic vertebral transformation ( J:96358 )

• 75% exhibit T1 to T2 transformation

• 50% exhibit T13 to L1 transformation

cervical vertebral transformation ( J:96358 )

• 45% exhibit C7 to T1 transformation, and showed ectopic ribs associated with C7 mimicking perfect ribs and forming joints with the anteriorly shifted sternum

lumbar vertebral transformation ( J:96358 )

• 100% exhibit an L6 to S1 transformation

abnormal sternum ossification ( J:96358 )

• the formation of an additional ossification center in the sternum

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