All Phenotypes Rxra<tm4Ipc> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
cn1	Rxra^tm4Ipc/Rxra^tm4Ipc Tg(Tyrp1-cre)1Ipc/0	involves: 129S2/SvPas	MGI:3038279
cn2	Rxra^tm4Ipc/Rxra^tm4Ipc Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0	involves: 129S2/SvPas	MGI:3622669
cn3	Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0	involves: 129S2/SvPas	MGI:3622670
cn4	Rxra^tm4Ipc/Rxra^tm4Ipc Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3629395
cn5	Rxra^tm4Ipc/Rxra^tm4Ipc Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3629406
cn6	Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3629408
cn7	Rxra^tm2Ipc/Rxra^tm4Ipc Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:4358397

Allelic Composition	Rxra^tm4Ipc/Rxra^tm4Ipc Tg(Tyrp1-cre)1Ipc/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxra^tm4Ipc mutation (0 available); any Rxra mutation (30 available)
Tg(Tyrp1-cre)1Ipc mutation (0 available)

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

vision/eye

decreased retina photoreceptor cell number ( J:88451 )

abnormal photoreceptor outer segment morphology ( J:88451 )

• 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

short photoreceptor outer segment ( J:88451 )

• photoreceptor outer segments are 77%, 66% and 65% shorter at 3, 12, and 18 months of age, respectively

disorganized photoreceptor outer segment ( J:88451 )

• photoreceptor outer segments appear disorganized beginning at 1 month of age and onwards

abnormal retina pigment epithelium morphology ( J:88451 )

• 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

abnormal retina pigmentation ( J:88451 )

• 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

retina pigment epithelium atrophy ( J:88451 )

• 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

abnormal retina outer nuclear layer morphology ( J:88451 )

• 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

abnormal cone electrophysiology ( J:88451 )

• b-wave amplitudes in both flicker and photopic electroretinograms (ERGs) are reduced by about 50%, however no differences in the latency of b-waves

abnormal rod electrophysiology ( J:88451 )

• 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

delayed dark adaptation ( J:88451 )

• delay in dark adaptation after photo bleach

pigmentation

abnormal retina pigment epithelium morphology ( J:88451 )

• 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

abnormal retina pigmentation ( J:88451 )

• 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

retina pigment epithelium atrophy ( J:88451 )

• 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

nervous system

decreased retina photoreceptor cell number ( J:88451 )

abnormal photoreceptor outer segment morphology ( J:88451 )

• 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

short photoreceptor outer segment ( J:88451 )

• photoreceptor outer segments are 77%, 66% and 65% shorter at 3, 12, and 18 months of age, respectively

disorganized photoreceptor outer segment ( J:88451 )

• photoreceptor outer segments appear disorganized beginning at 1 month of age and onwards

Allelic Composition	Rxra^tm4Ipc/Rxra^tm4Ipc Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxra^tm4Ipc mutation (0 available); any Rxra mutation (30 available)
Rxrb^tm1Pcn mutation (0 available); any Rxrb mutation (27 available)
Tg(KRT14-cre/ERT2)1Ipc mutation (1 available)

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

Rxra^tm4Ipc/Rxra^tm4Ipc Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 mice develop a chronic skin inflammation

immune system

enlarged spleen ( J:102470 )

• after weeks 2-8, mutants develop progressive splenomegaly

ear inflammation ( J:102470 )

• 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

increased leukocyte cell number ( J:102470 )

• total WBC counts are 24500 cells in mutants compared to 9700 cells in controls; eosinophils and neutrophils are increased relative to control

lymph node hyperplasia ( J:102470 )

• mutants display hyperplasia of regional lymph nodes

enlarged cervical lymph nodes ( J:102470 )

• at weeks 2 and 24, cervical lymph nodes are enlarged 2- and 10-fold respectively

dermatitis ( J:102470 )

• adult mice develop a spontaneous dermatitis that occurs predominantly on and behind the ears, on the face, and in the neck and back regions

hematopoietic system

enlarged spleen ( J:102470 )

• after weeks 2-8, mutants develop progressive splenomegaly

increased leukocyte cell number ( J:102470 )

• total WBC counts are 24500 cells in mutants compared to 9700 cells in controls; eosinophils and neutrophils are increased relative to control

liver/biliary system

enlarged liver ( J:102470 )

• at week 20, 50% of mutants have livers that are enlarged up to 2-fold

hearing/vestibular/ear

ear inflammation ( J:102470 )

• 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

integument

dermal cyst ( J:102470 )

dermatitis ( J:102470 )

• adult mice develop a spontaneous dermatitis that occurs predominantly on and behind the ears, on the face, and in the neck and back regions

alopecia ( J:102470 )

• mutants display progressive alopecia that is obvious by 6 weeks after Tamoxifen administration at 6 weeks of age

hair follicle degeneration ( J:102470 )

mixed cellular infiltration to dermis ( J:102470 )

• infiltrated cells and dilated blood vessels are present in the dermis; by week 24, there is heavy dermal infiltrate in mutant ears

epidermal hyperplasia ( J:102470 )

• at week 2, ear and dorsal skin biopsies show epidermal hyperplasia; at week 12. ears exhibit high epidermal hyperplasia

dry skin ( J:102470 )

• at week 6-8, mice exhibit dry skin on the trunk

scaly skin ( J:102470 )

• at week 6-8, mice exhibit scaly skin on the trunk

skin lesions ( J:102470 )

• at week 6-8, small lesions are macroscopically visible on the trunk

growth/size/body

dermal cyst ( J:102470 )

enlarged liver ( J:102470 )

• at week 20, 50% of mutants have livers that are enlarged up to 2-fold

enlarged spleen ( J:102470 )

• after weeks 2-8, mutants develop progressive splenomegaly

Allelic Composition	Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0
Genetic Background	involves: 129S2/SvPas

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxra^tm1Ipc mutation (0 available); any Rxra mutation (30 available)
Rxra^tm4Ipc mutation (0 available); any Rxra mutation (30 available)
Rxrb^tm1Mma mutation (0 available); any Rxrb mutation (27 available)
Rxrb^tm1Pcn mutation (0 available); any Rxrb mutation (27 available)
Tg(KRT14-cre/ERT2)1Ipc mutation (1 available)

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

Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 mice develop alopecia but no skin inflammation while Rxra^tm4Ipc/Rxra^tm4Ipc Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 mice show both hair loss and skin inflammation

immune system

increased immunoglobulin level ( J:102470 )

• at week 12, IgG and IgE levels are 5- and 4-fold higher respectively in mutants compared to wild-type

integument

alopecia ( J:102470 )

• mice develop early hair loss observed around the eyes and the dorsal skin at weeks 3 to 5

hair follicle degeneration ( J:102470 )

abnormal skin morphology ( J:109090 )

• phenotype of adult mutant epidermis is identical to that observed in Rarg^tm1Ipc newborns

dermal hyperplasia ( J:102470 )

• at week 5, mice show a dense dermal hyperplasia

mixed cellular infiltration to dermis ( J:102470 )

• mutants show a weaker infiltration of the dermis

abnormal epidermis stratum corneum morphology ( J:109090 )

• 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

abnormal keratinocyte morphology ( J:109090 )

• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae

• disorganized lamellae form aggregates at the apical pole of granular keratinocytes

epidermal hyperplasia ( J:102470 )

• at week 5, mice show a dense dermal hyperplasia and hyperplasic epidermis

hematopoietic system

increased immunoglobulin level ( J:102470 )

• at week 12, IgG and IgE levels are 5- and 4-fold higher respectively in mutants compared to wild-type

Allelic Composition	Rxra^tm4Ipc/Rxra^tm4Ipc Rxrb^tm1Pcn/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * SJL

Find Mice

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

homeostasis/metabolism

decreased cholesterol level ( J:109090 )

• there is a marked decrease in cholesterol in newborns

integument

abnormal epidermis stratum corneum morphology ( J:109090 )

• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis

abnormal keratinocyte morphology ( J:109090 )

• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae

• disorganized lamellae form aggregates at the apical pole of granular keratinocytes

shiny skin ( J:109090 )

• newborns have skin with glossy appearance

Allelic Composition	Rxra^tm4Ipc/Rxra^tm4Ipc Tg(KRT14-cre)1Ipc/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * SJL

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Rxra^tm4Ipc mutation (0 available); any Rxra mutation (30 available)
Tg(KRT14-cre)1Ipc mutation (0 available)

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

integument

abnormal epidermis stratum corneum morphology ( J:109090 )

• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis

abnormal keratinocyte morphology ( J:109090 )

• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae

• disorganized lamellae form aggregates at the apical pole of granular keratinocytes

shiny skin ( J:109090 )

Allelic Composition	Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0
Genetic Background	involves: 129S2/SvPas * C57BL/6 * SJL

Find Mice

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

integument

abnormal skin morphology ( J:109090 )

• phenotype of newborn mutant epidermis is identical to that observed in Rarg^tm1Ipc newborns

abnormal epidermis stratum corneum morphology ( J:109090 )

• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis

abnormal keratinocyte morphology ( J:109090 )

• granular keratinocytes in mutants contain vesicles devoid of lamellae or with disorganized lamellae

• disorganized lamellae form aggregates at the apical pole of granular keratinocytes

abnormal skin condition ( J:109090 )

• skin of newborns appears dull

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

pigmentation

diluted coat color ( J:67149 )

• in mice suffering alopecia, the remaining hair is lighter or grey/white

• hair that grows back after depilation is often white

abnormal melanosome morphology ( J:67149 )

• melanin synthesis is reduced in these mice

abnormal hair follicle melanin granule distribution ( J:67149 )

• melanosomes are found in the outer root sheath keratinocytes

immune system

abnormal Langerhans cell morphology ( J:67149 )

• 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

skin inflammation ( J:67149 )

• 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

hematopoietic system

abnormal Langerhans cell morphology ( J:67149 )

• 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

integument

increased keratinocyte proliferation ( J:67149 )

• there is increased basal and utricular keratinocyte proliferation in these mice

skin inflammation ( J:67149 )

• 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

diluted coat color ( J:67149 )

• in mice suffering alopecia, the remaining hair is lighter or grey/white

• hair that grows back after depilation is often white

abnormal hair growth ( J:67149 )

alopecia ( J:67149 )

• 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

delayed hair appearance ( J:67149 )

• initial hair appearance is delayed by 4-5 days

• follicular growth is delayed at 7 days post birth

thin hypodermis ( J:67149 )

• hypodermis is thin at 7 days post birth

abnormal hair follicle morphology ( J:67149 )

abnormal hair follicle melanin granule distribution ( J:67149 )

• melanosomes are found in the outer root sheath keratinocytes

disorganized outer root sheath cells ( J:67149 )

• 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

abnormal piliary canal morphology ( J:67149 )

• a dilatation of the piliary canal, a lack of hair shaft and/or filling of the canal with horny cells are observed

dilated piliary canal ( J:67149 )

distorted hair follicle pattern ( J:67149 )

• hair follicles are disorganized in areas of partial hair loss

hair follicle degeneration ( J:67149 )

• 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

abnormal hair cycle anagen phase ( J:67149 )

• 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

abnormal hair cycle telogen phase ( J:67149 )

• 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

abnormal skin morphology ( J:67149 )

dermal cyst ( J:67149 )

• 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

thick dermal layer ( J:67149 )

• increased dermal cellularity is often observed underneath the hyperplastic epidermis

• capillaries in the dermis are often dilated

hyperkeratosis ( J:67149 )

• 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

thick epidermis suprabasal layer ( J:67149 )

• 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

scaly skin ( J:67149 )

• ten days after birth the skin has a scaly appearance though this disappears by 17 days of age

skin lesions ( J:67149 )

• 10% of mutant mice exhibited minor crusted skin lesions, mainly seen in dorsal hairless areas, on the chin and behind the ears

cellular

increased keratinocyte proliferation ( J:67149 )

• there is increased basal and utricular keratinocyte proliferation in these mice

growth/size/body

dermal cyst ( J:67149 )

• 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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