Phenotypes associated with this allele
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm4Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Tg(Tyrp1-cre)1Ipc mutation
(0 available)
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vision/eye
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• presence of large and irregular intercellular spaces between the photoreceptor outer segments
• large cysts and ectopic RPE cells are frequently seen in the photoreceptor outer segment layer of the retina
• alteration of the outer segment disk membranes
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• photoreceptor outer segments are 77%, 66% and 65% shorter at 3, 12, and 18 months of age, respectively
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• photoreceptor outer segments appear disorganized beginning at 1 month of age and onwards
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• retinal pigment epithelium (RPE) cells at 3 months of age are abnormally flat and elongated and often overlap with one another
• RPE cells have poorly developed apical microvilli and basal membrane infoldings and fewer phagosomes
• RPE cells have abnormal organelles such as large phagolysosomes and vacuoles and numerous lipid droplets
• cytoplasmic fragments, large cysts and myeloid bodies are seen on the apical side of the RPE
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• RPE exhibits an uneven distribution of melanin granules at P12 and fewer melanin granules within RPE cells
• melanin granule shape is irregular and typical fusiform granules are almost lacking
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• thickness of entire retinal pigment epithelium (RPE) is decreased at P12, and 3, 12, and 18 months of age, but not at E17.5 or P4
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• number of nuclear rows in the outer nuclear layer is 83%, 80% and 78% of controls at 3, 12, and 19 months of age, respectively
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• b-wave amplitudes in both flicker and photopic electroretinograms (ERGs) are reduced by about 50%, however no differences in the latency of b-waves
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• both a- and b-wave amplitudes are reduced by about 50% indicating reduced scotopic responses, however no differences in the latency of for the a- and b-waves
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• delay in dark adaptation after photo bleach
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pigmentation
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• retinal pigment epithelium (RPE) cells at 3 months of age are abnormally flat and elongated and often overlap with one another
• RPE cells have poorly developed apical microvilli and basal membrane infoldings and fewer phagosomes
• RPE cells have abnormal organelles such as large phagolysosomes and vacuoles and numerous lipid droplets
• cytoplasmic fragments, large cysts and myeloid bodies are seen on the apical side of the RPE
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• RPE exhibits an uneven distribution of melanin granules at P12 and fewer melanin granules within RPE cells
• melanin granule shape is irregular and typical fusiform granules are almost lacking
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• thickness of entire retinal pigment epithelium (RPE) is decreased at P12, and 3, 12, and 18 months of age, but not at E17.5 or P4
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nervous system
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• presence of large and irregular intercellular spaces between the photoreceptor outer segments
• large cysts and ectopic RPE cells are frequently seen in the photoreceptor outer segment layer of the retina
• alteration of the outer segment disk membranes
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• photoreceptor outer segments are 77%, 66% and 65% shorter at 3, 12, and 18 months of age, respectively
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• photoreceptor outer segments appear disorganized beginning at 1 month of age and onwards
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm4Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Rxrbtm1Pcn mutation
(0 available);
any
Rxrb mutation
(26 available)
Tg(KRT14-cre/ERT2)1Ipc mutation
(1 available)
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Rxratm4Ipc/Rxratm4Ipc Rxrbtm1Pcn/Rxrbtm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 mice develop a chronic skin inflammation
immune system
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• after weeks 2-8, mutants develop progressive splenomegaly
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• mutant ears display reddening, swelling and scaling at week 2; by week 24, all mutants have swollen and red ears and 60% have developed ulcerations and crusts in the ear
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• total WBC counts are 24500 cells in mutants compared to 9700 cells in controls; eosinophils and neutrophils are increased relative to control
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• mutants display hyperplasia of regional lymph nodes
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• at weeks 2 and 24, cervical lymph nodes are enlarged 2- and 10-fold respectively
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• adult mice develop a spontaneous dermatitis that occurs predominantly on and behind the ears, on the face, and in the neck and back regions
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hematopoietic system
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• after weeks 2-8, mutants develop progressive splenomegaly
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• total WBC counts are 24500 cells in mutants compared to 9700 cells in controls; eosinophils and neutrophils are increased relative to control
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liver/biliary system
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• at week 20, 50% of mutants have livers that are enlarged up to 2-fold
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hearing/vestibular/ear
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• mutant ears display reddening, swelling and scaling at week 2; by week 24, all mutants have swollen and red ears and 60% have developed ulcerations and crusts in the ear
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integument
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• adult mice develop a spontaneous dermatitis that occurs predominantly on and behind the ears, on the face, and in the neck and back regions
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• mutants display progressive alopecia that is obvious by 6 weeks after Tamoxifen administration at 6 weeks of age
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• infiltrated cells and dilated blood vessels are present in the dermis; by week 24, there is heavy dermal infiltrate in mutant ears
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• at week 2, ear and dorsal skin biopsies show epidermal hyperplasia; at week 12. ears exhibit high epidermal hyperplasia
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• at week 6-8, mice exhibit dry skin on the trunk
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• at week 6-8, mice exhibit scaly skin on the trunk
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• at week 6-8, small lesions are macroscopically visible on the trunk
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growth/size/body
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• at week 20, 50% of mutants have livers that are enlarged up to 2-fold
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• after weeks 2-8, mutants develop progressive splenomegaly
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm1Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Rxratm4Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Rxrbtm1Mma mutation
(0 available);
any
Rxrb mutation
(26 available)
Rxrbtm1Pcn mutation
(0 available);
any
Rxrb mutation
(26 available)
Tg(KRT14-cre/ERT2)1Ipc mutation
(1 available)
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Rxratm1Ipc/Rxratm4Ipc Rxrbtm1Mma/Rxrbtm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 mice develop alopecia but no skin inflammation while Rxratm4Ipc/Rxratm4Ipc Rxrbtm1Pcn/Rxrbtm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 mice show both hair loss and skin inflammation
immune system
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• at week 12, IgG and IgE levels are 5- and 4-fold higher respectively in mutants compared to wild-type
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integument
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• mice develop early hair loss observed around the eyes and the dorsal skin at weeks 3 to 5
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• phenotype of adult mutant epidermis is identical to that observed in Rargtm1Ipc newborns
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• at week 5, mice show a dense dermal hyperplasia
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• mutants show a weaker infiltration of the dermis
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• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis
• with treatment with the Ppard agonist L165041, epidermis of adult mice is similar to control mice with lipids forming a continuous ribbon on top of the cornified layer
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• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae
• disorganized lamellae form aggregates at the apical pole of granular keratinocytes
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• at week 5, mice show a dense dermal hyperplasia and hyperplasic epidermis
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hematopoietic system
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• at week 12, IgG and IgE levels are 5- and 4-fold higher respectively in mutants compared to wild-type
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm4Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Rxrbtm1Pcn mutation
(0 available);
any
Rxrb mutation
(26 available)
Tg(KRT14-cre)1Ipc mutation
(0 available)
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homeostasis/metabolism
integument
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• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis
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• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae
• disorganized lamellae form aggregates at the apical pole of granular keratinocytes
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• newborns have skin with glossy appearance
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm4Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Tg(KRT14-cre)1Ipc mutation
(0 available)
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integument
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• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis
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• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae
• disorganized lamellae form aggregates at the apical pole of granular keratinocytes
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm1Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Rxratm4Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Rxrbtm1Mma mutation
(0 available);
any
Rxrb mutation
(26 available)
Rxrbtm1Pcn mutation
(0 available);
any
Rxrb mutation
(26 available)
Tg(KRT14-cre)1Ipc mutation
(0 available)
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integument
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• phenotype of newborn mutant epidermis is identical to that observed in Rargtm1Ipc newborns
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• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis
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• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae
• disorganized lamellae form aggregates at the apical pole of granular keratinocytes
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• skin of newborns appears dull
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| Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxratm2Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Rxratm4Ipc mutation
(0 available);
any
Rxra mutation
(30 available)
Tg(KRT14-cre)1Ipc mutation
(0 available)
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pigmentation
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• in mice suffering alopecia, the remaining hair is lighter or grey/white
• hair that grows back after depilation is often white
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• melanin synthesis is reduced in these mice
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• melanosomes are found in the outer root sheath keratinocytes
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immune system
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• Langerhans cells are found in higher numbers in the both the suprabasal and basal areas of the skin
• Langerhans cells are also found surrounding cysts
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• 16 week old ventral skin has increased cellularity, dilated capillaries and increased numbers of immune cells
• increased numbers of macrophages, CD4 T cells, Langerhans cells, and mast cells are found in the dermis
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hematopoietic system
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• Langerhans cells are found in higher numbers in the both the suprabasal and basal areas of the skin
• Langerhans cells are also found surrounding cysts
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integument
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• there is increased basal and utricular keratinocyte proliferation in these mice
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• 16 week old ventral skin has increased cellularity, dilated capillaries and increased numbers of immune cells
• increased numbers of macrophages, CD4 T cells, Langerhans cells, and mast cells are found in the dermis
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• in mice suffering alopecia, the remaining hair is lighter or grey/white
• hair that grows back after depilation is often white
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• mice develop a progressive alopecia that starts ventrally on the legs and extends to most ventral regions and parts of the back
• by 16 weeks of age, 80% of ventral hair is loss and flaking occurs
• 30-40% of back hair is lost with additional hair loss occurring around the eyes by 16 weeks of age
• alopecia is less penetrant in about 20% of male mice
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• initial hair appearance is delayed by 4-5 days
• follicular growth is delayed at 7 days post birth
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• hypodermis is thin at 7 days post birth
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• melanosomes are found in the outer root sheath keratinocytes
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• the outer root sheath contains 4-6 cell layers instead of 1-2 cell layers
• intercellular gaps occur with these cells
• compound melanosomes are often found in these outer root sheets
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• a dilatation of the piliary canal, a lack of hair shaft and/or filling of the canal with horny cells are observed
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• hair follicles are disorganized in areas of partial hair loss
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• hairless skin from 12 week old show signs of degenerating hair follicles
• presence of closed, round dermal cysts that are embedded in the reticular dermis and not connected to the skin's surface are also observed
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• mice have impaired anagan initiation after depilation of dorsal hair
• while controls have uniform pigmentation 6 days after depilation, mutants do not show any pigmentation until 10 days post-depilation
• only patchy fur has developed in mutant mice 24 days after depilation while controls look normal
• hair that grows back after depilation is often white
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• only 40% of mice are in the first telogen phase at 18 days of age compared to almost all age-matched controls being in telogen
• by 20 days of age, almost all mutants are in telogen phase
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• many cysts are visible under the skin surface of hairless regions in all 13- to 15-week-old mutant females
• cysts form later and their number and size are reduced in a male mice without alopecia
• cysts are filled with cornified debris and sebum, and their wall consists of a multilayer keratinized epithelium containing a number of Langerhans cells
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• increased dermal cellularity is often observed underneath the hyperplastic epidermis
• capillaries in the dermis are often dilated
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• stratum corneum of mutant epidermis is thicker in mice at 10 days of age with differences observed in both dorsal and ventral skin
• the number of BrdU-positive keratinocytes was six- to sevenfold higher in
basal layer cells than in controls at 10 days of age
• no differences are detected at 18 days of age
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• four viable suprabasal layers are present in wild-type mice compared to 1-2 layers in controls mice
• later in life when hair loss occurs, hyperplasia is seen in areas adjacent to disorganized hair follicles
• no differences are detected at 18 days of age
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• ten days after birth the skin has a scaly appearance though this disappears by 17 days of age
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• 10% of mutant mice exhibited minor crusted skin lesions, mainly seen in dorsal hairless areas, on the chin and behind the ears
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cellular
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• there is increased basal and utricular keratinocyte proliferation in these mice
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growth/size/body
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• many cysts are visible under the skin surface of hairless regions in all 13- to 15-week-old mutant females
• cysts form later and their number and size are reduced in a male mice without alopecia
• cysts are filled with cornified debris and sebum, and their wall consists of a multilayer keratinized epithelium containing a number of Langerhans cells
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Analysis Tools