All Phenotypes Phc2<tm1Hko> MGI Mouse

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Phenotypes associated with this allele

Allele Symbol
Allele Name
Allele ID

Phc2^tm1Hko
targeted mutation 1, Haruhiko Koseki
MGI:3586989

Summary

13 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Phc2^tm1Hko/Phc2^tm1Hko	B6.129-Phc2^tm1Hko	MGI:3590547
hm2	Phc2^tm1Hko/Phc2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ	MGI:4946510
ht3	Phc2^tm1Hko/Phc2⁺	involves: 129S1/Sv * 129X1/SvJ	MGI:5559483
cx4	Phc1^tm1Os/Phc1^tm1Os Phc2^tm1Hko/Phc2^tm1Hko	involves: 129/Sv * C57BL/6	MGI:3590549
cx5	Phc1^tm1Os/Phc1^tm1Os Phc2^tm1Hko/Phc2⁺	involves: 129/Sv * C57BL/6	MGI:3590550
cx6	Phc1^tm1Os/Phc1⁺ Phc2^tm1Hko/Phc2^tm1Hko	involves: 129/Sv * C57BL/6	MGI:3590551
cx7	Phc1^tm1Os/Phc1⁺ Phc2^tm1Hko/Phc2⁺	involves: 129/Sv * C57BL/6	MGI:3590552
cx8	Pcgf2^tm1Hko/Pcgf2^tm1Hko Phc2^tm1Hko/Phc2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ	MGI:4946509
cx9	Pcgf2^tm1Hko/Pcgf2^tm1Hko Phc2^tm1Hko/Phc2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3590548
cx10	Phc2^tm1Hko/Phc2^tm1Hko Scmh1^tm1Hko/Scmh1^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3707450
cx11	Phc2^tm1Hko/Phc2⁺ Scmh1^tm1Hko/Scmh1^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3707451
cx12	Mtf2^tm1.1Hko/Mtf2^tm1.1Hko Phc2^tm1Hko/Phc2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4946507
cx13	Mtf2^tm1.1Hko/Mtf2⁺ Phc2^tm1Hko/Phc2^tm1Hko	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:4946508

Allelic Composition	Phc2^tm1Hko/Phc2^tm1Hko
Genetic Background	B6.129-Phc2^tm1Hko

Find Mice

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

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

skeleton

abnormal axial skeleton morphology ( J:100027 )

• all homozygotes have at least a few alterations to the axial skeleton characteristic of posterior transformations; however, the skull is similar to wild-type

• an ectopic bone floats between the occipital bones and the first cervical vertebra

abnormal sternum morphology ( J:100027 )

• the sternum is shifted cranially

asymmetric sternocostal joints ( J:100027 )

• the 7th rib pair are detached from the sternum and the 13th rib pair are missing or floating

abnormal rib morphology ( J:100027 )

increased rib number ( J:100027 )

• ectopic ribs are associated with C7 in 67% of homozygotes

rib fusion ( J:100027 )

• C7 ectopic ribs are imperfect and fused to the middle part of the first ribs; the rest of the ribs are perfect and directly associated with the cranially shifted sternum

fusion of atlas and odontoid process ( J:100027 )

• the odontoid process is fused to the first cervical vertebra (C1)

split cervical atlas ( J:100027 )

• the dorsal part of the C1 is often bifurcated

split cervical axis ( J:100027 )

• the dorsal part of C2 is often bifurcated

vertebral transformation ( J:100027 )

• the thoracolumbar and lumbosacral boundaries are shifted anteriorly

thoracic vertebral transformation ( J:100027 )

• a prominent spinous process normally associated with the second thoracic vertebra (T2) is associated with T1 in all homozygotes

cervical vertebral transformation ( J:100027 )

• in the lateral view C2 resembles C3

cellular

decreased fibroblast proliferation ( J:100027 )

• MEFs grow more slowly and stop dividing earlier

immune system

immune system phenotype ( J:100027 )

N	• no significant changes in lymphocyte development are seen

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

Find Mice

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

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

skeleton

increased rib number ( J:204987 )

• C7 transformation to T1 in 4 of 6 mice with ectopic ribs on C7

cervical vertebral fusion ( J:204987 )

• C1 to C2 in all mice

vertebral transformation ( J:204987 )

• posterior transformation of the axis as in null mice

thoracic vertebral transformation ( J:204987 )

• T1 to T2 in all mice

• T13 to L1 in 5 of 6 mice

cervical vertebral transformation ( J:204987 )

• C7 to T1 in 4 of 6 mice with ectopic ribs on C7

lumbar vertebral transformation ( J:204987 )

• L6 to S1 in 4 of 6 mice

cellular

early cellular replicative senescence ( J:170279 )

• in mouse embryonic fibroblasts

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

Find Mice

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

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

skeleton

increased rib number ( J:204987 )

• C7 transformation to T1 in 2 of 13 mice with ectopic ribs on C7

vertebral transformation ( J:204987 )

• posterior transformation of the axis as in null mice

cervical vertebral transformation ( J:204987 )

• C7 to T1 in 2 of 13 mice with ectopic ribs on C7

lumbar vertebral transformation ( J:204987 )

• L6 to S1 in 3 of 13 mice

Allelic Composition	Phc1^tm1Os/Phc1^tm1Os 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

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

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⁺ 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

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	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 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	Phc2^tm1Hko/Phc2^tm1Hko Scmh1^tm1Hko/Scmh1^tm1Hko
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2^tm1Hko mutation (1 available); any Phc2 mutation (83 available)
Scmh1^tm1Hko mutation (0 available); any Scmh1 mutation (102 available)

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

reproductive system

reproductive system phenotype ( J:119909 )

N	• spermatogenic defects seen in Scmh1^tm1Hko homozygotes are alleviated • male fertility is restored and testes morphology is normal

Allelic Composition	Phc2^tm1Hko/Phc2⁺ Scmh1^tm1Hko/Scmh1^tm1Hko
Genetic Background	involves: 129S1/Sv * 129X1/SvJ * C57BL/6

Find Mice

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

reproductive system

abnormal spermatogenesis ( J:119909 )

• spermatogenic defects seen in Scmh1^tm1Hko homozygotes are alleviated, though to a lesser extent than in the double homozygotes

Allelic Composition	Mtf2^tm1.1Hko/Mtf2^tm1.1Hko Phc2^tm1Hko/Phc2^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)
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 supraoccipital bone morphology ( J:170279 )

• 90% of mice exhibit supraoccipital bone to C1 transformation

thoracic vertebral transformation ( J:170279 )

• 60% of mice exhibit T8 to T9 transformation

• 80% of mice exhibit T13 to L1 transformation

cervical vertebral transformation ( J:170279 )

• 100% of mice exhibit C1 to C2 transformation

• 40% of mice exhibit C2 to C3 transformation

• 100% of mice exhibit C7 to T1 transformation

lumbar vertebral transformation ( J:170279 )

• 100% of mice exhibit L6 to S1 transformation

cellular

early cellular replicative senescence ( J:170279 )

• in mouse embryonic fibroblasts

craniofacial

abnormal supraoccipital bone morphology ( J:170279 )

• 90% of mice exhibit supraoccipital bone to C1 transformation

Allelic Composition	Mtf2^tm1.1Hko/Mtf2⁺ 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

prenatal lethality, complete penetrance ( J:170279 )

• mice exhibit late-gestational lethality

skeleton

abnormal skeleton morphology ( J:170279 )

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