Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
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mortality/aging
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• about 15% show mid-gestation lethality
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embryo
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• about 15% show severe gastrulation defects
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craniofacial
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• low frequency of mandible hypoplasia
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endocrine/exocrine glands
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• delay in maturation of the testes
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reproductive system
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• delay in maturation of the testes
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• partial sterility of females
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skeleton
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• low frequency of mandible hypoplasia
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vision/eye
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• low frequency of mild cyclopia
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Bmpr2tm1.1Enl mutation
(1 available);
any
Bmpr2 mutation
(45 available)
Tg(Tyr-cre)1Lru mutation
(1 available)
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pigmentation
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• female pups develop gray hair mosaically, consistent with the mosaic inactivation of the transgene-carrying X chromosome
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integument
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• female pups develop gray hair mosaically, consistent with the mosaic inactivation of the transgene-carrying X chromosome
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Bmpr2tm1.1Enl mutation
(1 available);
any
Bmpr2 mutation
(45 available)
Tg(Tyr-cre)1Lru mutation
(1 available)
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pigmentation
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• male pups show a dramatic hypopigmentation of the hair coat
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• gray-haired skin shows normal melanocyte distribution but substantially less melanin in the hair follicles than control skin
• a reduction in melanin is noted in the hair bulb, where melanocytes form a conical cluster
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• a reduction in melanin is noted in the hair shaft
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• male pups develop uniformly gray coats; gray hair develops during the first period of hair production
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• melanocytes of gray-haired skin produce numerous, dakly-pigmented miniaturized melanosomes, indicating impaired melanosome growth with no significant reduction in melanosome number or pigment-making ability
• failure of melanosomes to grow leads to less production/accumulation of melanin per melanosome
• miniaturized melanosomes are still transferred to epithelial cells of the hair shaft but hair shafts receive less pigment in total, resulting in hypopigmentation and gray color
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integument
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• male pups show a dramatic hypopigmentation of the hair coat
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• gray-haired skin shows normal melanocyte distribution but substantially less melanin in the hair follicles than control skin
• a reduction in melanin is noted in the hair bulb, where melanocytes form a conical cluster
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• a reduction in melanin is noted in the hair shaft
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• male pups develop uniformly gray coats; gray hair develops during the first period of hair production
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Bmpr2tm1.1Enl mutation
(1 available);
any
Bmpr2 mutation
(45 available)
Tg(KRT14-cre)1Ipc mutation
(0 available)
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mortality/aging
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• mice die around the time of birth
• however, no skin a barrier defect is observed
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vision/eye
integument
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• mice exhibit defects in hair development and retention; newborn skin fails to generate coat hair fibers or vibrissae
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• coat follicles typically lack hair bulbs
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• newborns show impaired hair follicle morphogenesis
• however, the epidermis is intact
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• coat and vibrissa hair follicles appear to be slowed or arrested in their development
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• vibrissa follicles possess hair bulbs but are short, showing less downgrowth into the dermis, and generally lack terminally differentiating structures (e.g. the inner root sheath and hair shaft) and terminal differentiation markers (e.g. trichohyalin)
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• vibrissa follicles generally lack the hair shaft
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Bmpr2tm1.1Enl mutation
(1 available);
any
Bmpr2 mutation
(45 available)
Tg(KRT14-cre)1Ipc mutation
(0 available)
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integument
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• at P20, awl, auchene, and zigzag hairs are markedly shorter than normal (consistent with premature entry into catagen), while the normally straightest hair types - guard and awl - are curved
• at P20, awl and auchene hairs lack multiple columns of medullary cells and have instead a single column; as such, awl/auchene hairs possess zigzag-like medullas and widths equivalent to normal zigzag fibers, making them markedly thinner than normal awl/auchene hairs
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• at P20, auchene hairs are markedly shorter and thinner than normal
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• at P20, awl hairs are markedly shorter and thinner than normal
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• coats undergo repeated cycles of hair loss and regrowth throughout life
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• mice exhibit cyclic alopecia
• starting at ~P14, mice undergo total, progressive loss of coat hair in a face-to-tail sequence such that mice are completely bald by ~3 weeks of age; shortly after total coat hair loss, a new hair coat forms in full once more, and this coat is quickly lost again after reaching its maximum length
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• hair follicles enter anagen precociously, leading to a greater number of hair cycles
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• adult mice display hair growth and loss simultaneously, resulting in the appearance of stripes of coat hair and bald skin
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• hair shafts fail to develop hair clubs and exhibit ends of variable length that are tapered, thin, and wavy
• comb-collected hair fibers show the same tapered ends as those gathered with a forceps
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• amorphous clumping of the medullary pigment is observed in all hair types
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• failure to develop hair clubs appears to be the primary cause of total hair loss
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• the hair medulla shows structural disorganization and differentiation defects
• at P11, the hair medulla shows many ectopic BrdU-labeled (proliferating) cells which are normally absent from the differentiating hair shaft
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• medullary cells appear disorganized and fail to form well-defined ladders of pigment bands in all hair types; amorphous clumping of medullary pigment is observed
• medullary trichohyalin is greatly reduced, suggesting that medullary cells fail to differentiate properly
• awl and auchene hair follicles fail to produce multiple columns of medullary cells, generating a single column instead; as such, awl/auchene hairs possess zigzag-like medullas
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• following birth, a dense coat is formed but a subset of hair shafts are thinner than those in control mice
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• at P20, zigzag hairs are markedly shorter than normal
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• mice exhibit excessive nail growth after 2 months of age
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• during catagen, mice show an increase in proliferating cells in the permanent" or superficial segment of the ORS that survives catagen
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• mice exhibit a shift in the anagen/catagen transition, leading to the premature end of anagen and early induction of catagen
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• mice exhibit shortened anagens; similar to the first period of hair production, the second period is also shorter, averaging 10.7 days versus 12.4 days in control mice
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• mice exhibit premature yet prolonged catagens
• catagen starts early with narrowing, amelanotic hair bulbs observed as early as P15, a time when controls continue to grow hair
• by P16-17, all hair follicles have entered catagen but progression through this phase of the hair cycle is slow
• however, no differences in apoptosis are observed during catagen
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• coat follicles always exhibit shortened telogens, as new hair is produced soon after the preceding hair fibers are lost
• at P50, the coat follicles have left the second telogen and uniformly re-entered anagen, whereas those of controls mice are still in the second telogen
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• hair follicles are still regressing at P20, as shown by the presence of extended epithelial strands (involuting remnants of the outer root sheath and hair bulb)
• slowly regressing epithelial strands often appear abnormally curled; concomitant with impaired follicular involution, hair shafts disappear from the skin
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• at P18 (during catagen), BrdU-labeled cells are increased in the superficial segments of the hair follicles
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• at the onset of anagen, mice exhibit a thicker epidermis consistent with an increased number of BrdU-labeled cells in the epidermis
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pigmentation
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• amorphous clumping of the medullary pigment is observed in all hair types
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Acvr2btm1Spo mutation
(0 available);
any
Acvr2b mutation
(27 available)
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skeleton
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• 100% penetrance of vertebral transformation of the 21st vertebra into the 14th thoracic vertebra
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embryo
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• 12 of 13 show effects associated with left-right asymmetry such as right pulmonary isomerism and transposition of great arteries
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cardiovascular system
respiratory system
growth/size/body
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Acvr2btm1Enl mutation
(0 available);
any
Acvr2b mutation
(27 available)
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mortality/aging
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• die before or during gastrulation and are resorbed by E8.5
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embryo
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• cell death is seen in the epiblast of some embryos
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• embryos are growth arrested at the early egg cylinder stage
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• exhibit a constriction at the embryonic and extraembryonic junction and the separation of the visceral endoderm and the epiblast
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cellular
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• cell death is seen in the epiblast of some embryos
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Acvr2btm1Enl mutation
(0 available);
any
Acvr2b mutation
(27 available)
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mortality/aging
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• die before or during gastrulation; by E9.5, embryos are partially or completely degenerated
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embryo
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• gastrulation is initiated but severely impaired subsequently
• severe gastrulation defects ranging from the lack of discernible embryonic axes to the formation or relatively normal axial and paraxial structures
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• formation of the embryonic mesoderm is severely impaired
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• exhibit defects in anterior patterning as indicated by marker expression
• the few embryos that are able to undergo relatively normal gastrulation, exhibit abnormal anterior neural development
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• almost all embryos with gastrulation defects do not form the head-fold structure
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• often show a constriction at the embryonic and extraembryonic junction, leading to the protrusion of embryos outside the yolk sac at E8.5
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• primitive streak elongation is disrupted
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cardiovascular system
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• almost all embryos with gastrulation defects do not form a primitive heart
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Acvr2btm1Enl mutation
(0 available);
any
Acvr2b mutation
(27 available)
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mortality/aging
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• die late in development or shortly after birth
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Acvr2btm1.1Spo mutation
(0 available);
any
Acvr2b mutation
(27 available)
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skeleton
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• 6 of 16 exhibit transformation of the 21st vertebra into the 14th thoracic vertebra
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embryo
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• 12 of 13 show effects associated with left-right asymmetry such as right pulmonary isomerism and transposition of great arteries
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cardiovascular system
respiratory system
growth/size/body
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Acvr2btm1.1Spo mutation
(0 available);
any
Acvr2b mutation
(27 available)
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mortality/aging
embryo
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• development is arrested at the gastrulation stage (E8.5)
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• the embryonic tissues grow outside of the yolk sac
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• exhibit constrictions at the junction between the extraembryonic and embryonic regions at E7.5
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Acvr2atm1Hsch mutation
(0 available);
any
Acvr2a mutation
(38 available)
Nodaltm1Rob mutation
(1 available);
any
Nodal mutation
(41 available)
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mortality/aging
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• embryonic lethality although time not specified
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embryo
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• over 60% show gastrulation defects
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nervous system
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• 4 of 13 embryos that developed beyond gastrulation have a reduced forebrain
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vision/eye
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• 6 of 8 newborns display cyclopia
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growth/size/body
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• 6 of 8 newborns show truncation of rostral head structures
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Analysis Tools