Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2tm1Hko mutation
(1 available);
any
Phc2 mutation
(83 available)
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skeleton
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• 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
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• the sternum is shifted cranially
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• the 7th rib pair are detached from the sternum and the 13th rib pair are missing or floating
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• ectopic ribs are associated with C7 in 67% of homozygotes
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• 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
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• the odontoid process is fused to the first cervical vertebra (C1)
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• the dorsal part of the C1 is often bifurcated
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• the dorsal part of C2 is often bifurcated
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• the thoracolumbar and lumbosacral boundaries are shifted anteriorly
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• a prominent spinous process normally associated with the second thoracic vertebra (T2) is associated with T1 in all homozygotes
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• in the lateral view C2 resembles C3
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cellular
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• MEFs grow more slowly and stop dividing earlier
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immune system
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N |
• no significant changes in lymphocyte development are seen
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2tm1Hko mutation
(1 available);
any
Phc2 mutation
(83 available)
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skeleton
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• C7 transformation to T1 in 4 of 6 mice with ectopic ribs on C7
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• posterior transformation of the axis as in null mice
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• T1 to T2 in all mice
• T13 to L1 in 5 of 6 mice
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• C7 to T1 in 4 of 6 mice with ectopic ribs on C7
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• L6 to S1 in 4 of 6 mice
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cellular
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• in mouse embryonic fibroblasts
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Allelic
Composition |
Phc2tm1Hko/Phc2+
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Genetic
Background |
involves: 129S1/Sv * 129X1/SvJ |
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2tm1Hko mutation
(1 available);
any
Phc2 mutation
(83 available)
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skeleton
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• C7 transformation to T1 in 2 of 13 mice with ectopic ribs on C7
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• posterior transformation of the axis as in null mice
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• C7 to T1 in 2 of 13 mice with ectopic ribs on C7
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• L6 to S1 in 3 of 13 mice
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mortality/aging
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• double homozygotes are lost in a progressive manner starting around E9.5
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embryo
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• at E9.5 the first branchial arches are poorly developed
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• at E9.5 the second branchial arches are poorly developed
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• after E8.5 double homozygous embryos become progressively growth retarded
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• at E9.5 only about 20 somites are present compared to 25 in littermates
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• the tail bud is smaller
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growth/size/body
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• after E8.5 double homozygous embryos become progressively growth retarded
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limbs/digits/tail
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• the tail bud is smaller
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craniofacial
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• at E9.5 the first branchial arches are poorly developed
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• at E9.5 the second branchial arches are poorly developed
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mortality/aging
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• mutants are alive at E17.5 but do not survive birth
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skeleton
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• skeletal defects are more severe than in mice homozygous for Phc1 only
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• segmentation of the exoccipital bone
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• the presphenoid bone is absent
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• there is a hole in the scapula
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• the 6th ribs are detached from the sternum
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• anterior processes are associated with the 5th cervical vertebra (C5)
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hearing/vestibular/ear
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• the caudal half of the tympanic bone is absent
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craniofacial
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• segmentation of the exoccipital bone
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• the presphenoid bone is absent
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digestive/alimentary system
growth/size/body
mortality/aging
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• mutants are alive at E17.5 but do not survive birth
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skeleton
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• skeletal defects are more severe than in mice homozygous for Phc2 only
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• the dorsal part of the occipital bone is floating
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• there is a hole in the scapula
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• the 6th ribs are detached from the sternum
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• anterior processes are associated with the 5th cervical vertebra (C5)
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craniofacial
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• the dorsal part of the occipital bone is floating
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digestive/alimentary system
growth/size/body
Allelic
Composition |
Phc1tm1Os/Phc1+
Phc2tm1Hko/Phc2+
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Genetic
Background |
involves: 129/Sv * C57BL/6 |
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skeleton
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• posterior transformations are seen in all double heterozygotes
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mortality/aging
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• mice exhibit late-gestational lethality
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skeleton
mortality/aging
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• double homozygotes die around E18.5
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skeleton
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• 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
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• the occipital bones are segmented to form an ectopic arch
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• the basioccipital bone is not completely segmented
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• the upper horn of the hyoid bone is fused to the styloid process
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• the entire rib cage is shifted anteriorly
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• the middle parts of the skull base and scapula fail to undergo cartilaginous condensation
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craniofacial
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• the occipital bones are segmented to form an ectopic arch
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• the basioccipital bone is not completely segmented
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• the upper horn of the hyoid bone is fused to the styloid process
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2tm1Hko mutation
(1 available);
any
Phc2 mutation
(83 available)
Scmh1tm1Hko mutation
(0 available);
any
Scmh1 mutation
(101 available)
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reproductive system
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N |
• spermatogenic defects seen in Scmh1tm1Hko homozygotes are alleviated
• male fertility is restored and testes morphology is normal
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Phc2tm1Hko mutation
(1 available);
any
Phc2 mutation
(83 available)
Scmh1tm1Hko mutation
(0 available);
any
Scmh1 mutation
(101 available)
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reproductive system
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• spermatogenic defects seen in Scmh1tm1Hko homozygotes are alleviated, though to a lesser extent than in the double homozygotes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtf2tm1.1Hko mutation
(0 available);
any
Mtf2 mutation
(314 available)
Phc2tm1Hko mutation
(1 available);
any
Phc2 mutation
(83 available)
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mortality/aging
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• mice exhibit late-gestational lethality
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skeleton
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• 90% of mice exhibit supraoccipital bone to C1 transformation
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• 60% of mice exhibit T8 to T9 transformation
• 80% of mice exhibit T13 to L1 transformation
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• 100% of mice exhibit C1 to C2 transformation
• 40% of mice exhibit C2 to C3 transformation
• 100% of mice exhibit C7 to T1 transformation
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• 100% of mice exhibit L6 to S1 transformation
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cellular
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• in mouse embryonic fibroblasts
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craniofacial
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• 90% of mice exhibit supraoccipital bone to C1 transformation
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Mtf2tm1.1Hko mutation
(0 available);
any
Mtf2 mutation
(314 available)
Phc2tm1Hko mutation
(1 available);
any
Phc2 mutation
(83 available)
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mortality/aging
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• mice exhibit late-gestational lethality
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skeleton
Analysis Tools