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Allele Symbol Allele Name Allele ID |
Rxratm2Ipc targeted mutation 2, Pierre Chambon MGI:2136274 |
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| Summary |
8 genotypes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 2 of 3 E15.5 homozygotes show ventral extension of the cricoid cartilage
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• 2 of 3 E15.5 homozygotes show ventral extension of the cricoid cartilage
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• fetuses die between E12.5 and E16.5
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• all E13.5 embryos exhibit ocular defects
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• E13.5 embryos have poor vascular irrigation
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• 1of 4 mice displayed a characteristic Rxra null phenotype
• 3 of 4 mice displayed a bilateral persistent and hyperplasic primary vitreous body
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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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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• 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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• 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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• 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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• there is increased basal and utricular keratinocyte proliferation in these mice
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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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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in the severity of the anterior eye segment malformations seen in single Rxratm2Ipc homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
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• increase in the severity of the anterior eye segment malformations seen in single Rxratm2Ipc homozygotes
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| ♀ | phenotype observed in females |
| ♂ | phenotype observed in males |
| N | normal phenotype |
| N |
• unlike in mice null for both Rxra and Rxrb, placentas appear normal at E9.5
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• absent at E9.5
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• at E9.5, bilateral hypoplasia of the third branchial arches is seen
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• enlargement of the fifth rhombomere is seen at E9.5
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• supernumerary otic vesicles are present at E9.5
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• enlargement of the fifth rhombomere is seen at E9.5
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• absent at E9.5
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• absent at E9.5
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• at E9.5, bilateral hypoplasia of the third branchial arches is seen
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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/23/2024 MGI 6.23 |
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