Phenotypes Associated with This Genotype

Genotype
MGI:2665708

• Allelic Composition: Rarg^tm1Ipc/Rarg^tm1Ipc
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

decreased survivor rate ( J:12691 )

• less than 40% survive to 3 months of age

premature death ( J:12691 )

• less than 40% survive to 3 months of age

reproductive system

abnormal prostate gland morphology ( J:12691 )

♂ • atrophy of cranial prostate, with the characteristic mucosal folds and septa of the prostate often missing

♂ • some mutants exhibit hypertrophy of the cranial prostate, probably due to an infection of the gland

squamous metaplasia of prostate gland ( J:12691 )

♂ • prostate glands exhibit squamous metaplasia and/or keratinization of the glandular epithelia

seminal vesicle atrophy ( J:12691 )

♂ • atrophy of seminal vesicles, with the characteristic mucosal folds and septa of the seminal often missing

squamous metaplasia of seminal vesicles ( J:12691 )

♂ • seminal vesicles exhibit squamous metaplasia and/or keratinization of the glandular epithelia

male infertility ( J:12691 )

♂ • males surviving to sexual maturity (older than 8 weeks) never impregnate females

♂ • due to squamous metaplasia of the seminal vesicles and prostate

skeleton

abnormal skeleton morphology ( J:21009 )

• in 25 of 29 mice

fused tracheal cartilage rings ( J:42773 , J:12691 )

• fusion between tracheal rings (J:42773)

• fusion of the cartilaginous rings on the ventral side of the trachea and disruption of the rings (J:12691)

abnormal axial skeleton morphology ( J:12691 )

• 25 of 29 mutants exhibit various malformations of the axial skeleton at E18.5

abnormal cricoid cartilage morphology ( J:42773 )

• presence of a cartilaginous process extending caudally from the ventral side of their cricoid cartilage; 100% penetrance

rib fusion ( J:12691 , J:21009 )

• fusion of the first and second ribs (J:12691)

• in 4 of 29 mice (J:21009)

abnormal cervical vertebrae morphology ( J:12691 , J:21009 )

• bifidus of the neural arch of the 1st or 2nd cervical vertebra (J:12691)

• fusion of cervical neural arches in 5 of 29 mice (J:21009)

abnormal cervical atlas morphology ( J:21009 )

• in 2 of 29 mice

fusion of atlas and occipital bones ( J:12691 , J:21009 )

• fusion of the basioccipital bone to the anterior arch of the atlas (J:12691)

• in 8 of 29 mice (J:21009)

abnormal cervical axis morphology ( J:21009 )

• in 3 of 29 mice

fusion of vertebral arches ( J:12691 )

• ossified fusions between the neural arches of either C1 and C2 or C2 and C3

vertebral transformation ( J:12691 )

thoracic vertebral transformation ( J:12691 )

• anterior transformation of the 8th thoracic vertebra to a 7th thoracic identity, resulting in 8 instead of 7 vertebrosternal ribs

cervical vertebral transformation ( J:12691 , J:21009 )

• anterior transformation of the axis (second cervical vertebra, C2) to an atlas (first cervical vertebra, C1) identity (J:12691)

• unilateral anterior transformation of C7 to a 6th vertebral identity (C6) with a concomitant unilateral anterior transformation of C6 to a 5th cervical identity (C5 (J:12691)

• C2 to C1 in 5 of 29 mice (J:21009)

• C6 to C5 in 4 of 29 mice (J:21009)

• C7 to C6 in 4 of 29 mice (J:21009)

abnormal skeleton development ( J:12691 )

• persistence of the first and third hypochordal bar at E18.5

growth/size/body

decreased body weight ( J:12691 )

• 40 to 80% the weight of littermates at P4-P5

postnatal growth retardation ( J:12691 )

• seen at P4-P5

homeostasis/metabolism

impaired skin barrier function ( J:109090 )

• at birth, no apparent defect is observed but in adult homozygotes, transepidermal water loss is increased by ~20%

abnormal response to vitamins ( J:12691 )

• fetuses from dams treated with retinoic acid are resistant to the formation of spinal bifida and other skeletal malformations caused by retinoic acid in controls

respiratory system

abnormal cricoid cartilage morphology ( J:42773 )

• presence of a cartilaginous process extending caudally from the ventral side of their cricoid cartilage; 100% penetrance

fused tracheal cartilage rings ( J:42773 , J:12691 )

• fusion between tracheal rings (J:42773)

• fusion of the cartilaginous rings on the ventral side of the trachea and disruption of the rings (J:12691)

craniofacial

fusion of atlas and occipital bones ( J:12691 , J:21009 )

• fusion of the basioccipital bone to the anterior arch of the atlas (J:12691)

• in 8 of 29 mice (J:21009)

endocrine/exocrine glands

abnormal prostate gland morphology ( J:12691 )

♂ • atrophy of cranial prostate, with the characteristic mucosal folds and septa of the prostate often missing

♂ • some mutants exhibit hypertrophy of the cranial prostate, probably due to an infection of the gland

squamous metaplasia of prostate gland ( J:12691 )

♂ • prostate glands exhibit squamous metaplasia and/or keratinization of the glandular epithelia

seminal vesicle atrophy ( J:12691 )

♂ • atrophy of seminal vesicles, with the characteristic mucosal folds and septa of the seminal often missing

squamous metaplasia of seminal vesicles ( J:12691 )

♂ • seminal vesicles exhibit squamous metaplasia and/or keratinization of the glandular epithelia

abnormal Harderian gland morphology ( J:12691 )

• bilateral absence of the Harderian gland epithelium in some mutants

vision/eye

abnormal eyelid morphology ( J:12691 )

• mutants often have closed and encrusted eyelids on one or both sides, first apparent around 2 weeks after birth

integument

impaired skin barrier function ( J:109090 )

• at birth, no apparent defect is observed but in adult homozygotes, transepidermal water loss is increased by ~20%

abnormal epidermis stratum corneum morphology ( J:109090 )

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

abnormal epidermal lamellar body morphology ( J:109090 )

• epidermis ultrastructure of null mice have altered lamellar granules which normally contain corneodesmosin and extrude lipids in wild-type mice

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

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