Phenotypes associated with this allele

• Allele Symbol: Rxrb^tm1Mma
• Allele Name: targeted mutation 1, Manuel Mark
• Allele ID: MGI:3606210
• Summary: 7 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rxrb^tm1Mma/Rxrb^tm1Mma	involves: 129 * C57BL/6	MGI:3608124
ht2	Rxrb^tm1Mma/Rxrb^+	involves: 129 * C57BL/6	MGI:3608126
cn3	Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0	involves: 129S2/SvPas	MGI:3622670
cn4	Rxra^tm1Ipc/Rxra^tm4Ipc Rxrb^tm1Mma/Rxrb^tm1Pcn Tg(KRT14-cre)1Ipc/0	involves: 129S2/SvPas * C57BL/6 * SJL	MGI:3629408
cx5	Nr1h2^tm1.1Gstr/Nr1h2^+ Rxrb^tm1Mma/Rxrb^+	involves: 129 * C57BL/6	MGI:3608127
cx6	Rxra^tm2Ipc/Rxra^tm2Ipc Rxrb^tm1Mma/Rxrb^tm1Mma	involves: 129/Sv * C57BL/6	MGI:3839234
cx7	Rxra^tm1Ipc/Rxra^tm1Ipc Rxrb^tm1Mma/Rxrb^tm1Mma	involves: 129S2/SvPas * C57BL/6	MGI:3839233

Genotype
MGI:3608124

hm1

• Allelic Composition: Rxrb^tm1Mma/Rxrb^tm1Mma
• Genetic Background: involves: 129 * C57BL/6

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

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:101966 )

♂ • large lipid droplets were detected in the seminiferous tubules of all mutants before completion of puberty

♂ • progressive lipid (cholesteryl esters) accumulation in sertoli cells

♂ • in older (12-month-old) mutants showed normal germ cells in some tubules and other with a degeneration

reproductive system

reproductive system phenotype ( J:101966 )

N • males were fertile and the seminiferous tubules did not display mature spermatid degradation

N • mutant mice did not display spermiogenesis defects as their spermatozoa ultrastructure was normal

abnormal Sertoli cell morphology ( J:101966 )

♂ • in older (12-month-old) mutants showed normal germ cells in some tubules and other with a degeneration

♂ • large lipid droplets were detected in the seminiferous tubules of all mutants before completion of puberty

♂ • progressive lipid (cholesteryl esters) accumulation in sertoli cells

cellular

decreased cholesterol efflux ( J:101966 )

• caused by reduced ABCA1 transporter-mediated cholesterol efflux

homeostasis/metabolism

decreased cholesterol efflux ( J:101966 )

• caused by reduced ABCA1 transporter-mediated cholesterol efflux

Genotype
MGI:3608126

ht2

• Allelic Composition: Rxrb^tm1Mma/Rxrb⁺
• Genetic Background: involves: 129 * C57BL/6

reproductive system

reproductive system phenotype ( J:101966 )

N • no lipid accumulation in sertoli cells were observed

Genotype
MGI:3622670

cn3

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

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

Genotype
MGI:3629408

cn4

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

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

Genotype
MGI:3608127

cx5

• Allelic Composition: Nr1h2^tm1.1Gstr/Nr1h2⁺; Rxrb^tm1Mma/Rxrb⁺
• Genetic Background: involves: 129 * C57BL/6

endocrine/exocrine glands

abnormal Sertoli cell morphology ( J:101966 )

♂ • lipid (cholesteryl esters) accumulation in sertoli cells

reproductive system

abnormal Sertoli cell morphology ( J:101966 )

♂ • lipid (cholesteryl esters) accumulation in sertoli cells

Genotype
MGI:3839234

cx6

• Allelic Composition: Rxra^tm2Ipc/Rxra^tm2Ipc; Rxrb^tm1Mma/Rxrb^tm1Mma
• Genetic Background: involves: 129/Sv * C57BL/6

embryo

embryo phenotype ( J:146761 )

N • unlike in mice null for both Rxra and Rxrb, placentas appear normal at E9.5

absent third pharyngeal arch artery ( J:146761 )

• absent at E9.5

third pharyngeal arch hypoplasia ( J:146761 )

• at E9.5, bilateral hypoplasia of the third branchial arches is seen

increased rhombomere 5 size ( J:146761 )

• enlargement of the fifth rhombomere is seen at E9.5

hearing/vestibular/ear

abnormal otic vesicle development ( J:146761 )

• supernumerary otic vesicles are present at E9.5

nervous system

increased rhombomere 5 size ( J:146761 )

• enlargement of the fifth rhombomere is seen at E9.5

cardiovascular system

absent third pharyngeal arch artery ( J:146761 )

• absent at E9.5

craniofacial

absent third pharyngeal arch artery ( J:146761 )

• absent at E9.5

third pharyngeal arch hypoplasia ( J:146761 )

• at E9.5, bilateral hypoplasia of the third branchial arches is seen

Genotype
MGI:3839233

cx7

• Allelic Composition: Rxra^tm1Ipc/Rxra^tm1Ipc; Rxrb^tm1Mma/Rxrb^tm1Mma
• Genetic Background: involves: 129S2/SvPas * C57BL/6

vision/eye

abnormal cornea stroma morphology ( J:146761 )

• the ventral portion is thickened at E14.5

ventral rotation of lens ( J:146761 )

• ventral rotation is seen at E14.5

abnormal eye development ( J:146761 )

• at E14.5 all mice have a persistent and hyperplasic primary vitreous body

abnormal eyelid morphology ( J:146761 )

• closer eyelid folds in mice at E14.5

abnormal ocular fundus morphology ( J:146761 )

optic disk coloboma ( J:146761 )

• small optic disc coloboma is seen in most mice at E14.5

abnormal retina morphology ( J:146761 )

• shortened ventral retina at E14.5

cardiovascular system

ventricular myocardium compact layer hypoplasia ( J:146761 )

• hypoplasia of the compact layer of the ventricular myocardium is seen in about 50% of mice

abnormal conotruncus septation ( J:146761 )

• agenesis of the conotruncal septum is occasionally seen at E14.5

nervous system

optic disk coloboma ( J:146761 )

• small optic disc coloboma is seen in most mice at E14.5

muscle

ventricular myocardium compact layer hypoplasia ( J:146761 )

• hypoplasia of the compact layer of the ventricular myocardium is seen in about 50% of mice