mortality/aging
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• less than 40% survive to 3 months of age
|
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• less than 40% survive to 3 months of age
|
reproductive system
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• 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
|
|
• prostate glands exhibit squamous metaplasia and/or keratinization of the glandular epithelia
|
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• atrophy of seminal vesicles, with the characteristic mucosal folds and septa of the seminal often missing
|
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• seminal vesicles exhibit squamous metaplasia and/or keratinization of the glandular epithelia
|
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• males surviving to sexual maturity (older than 8 weeks) never impregnate females
• due to squamous metaplasia of the seminal vesicles and prostate
|
skeleton
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• fusion of the cartilaginous rings on the ventral side of the trachea and disruption of the rings
(J:12691)
• fusion between tracheal rings
(J:42773)
|
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• 25 of 29 mutants exhibit various malformations of the axial skeleton at E18.5
|
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• presence of a cartilaginous process extending caudally from the ventral side of their cricoid cartilage; 100% penetrance
|
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• fusion of the first and second ribs
(J:12691)
• in 4 of 29 mice
(J:21009)
|
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• 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)
|
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• fusion of the basioccipital bone to the anterior arch of the atlas
(J:12691)
• in 8 of 29 mice
(J:21009)
|
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• ossified fusions between the neural arches of either C1 and C2 or C2 and C3
|
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• anterior transformation of the 8th thoracic vertebra to a 7th thoracic identity, resulting in 8 instead of 7 vertebrosternal ribs
|
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• 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)
|
|
• persistence of the first and third hypochordal bar at E18.5
|
growth/size/body
|
• 40 to 80% the weight of littermates at P4-P5
|
homeostasis/metabolism
respiratory system
|
• presence of a cartilaginous process extending caudally from the ventral side of their cricoid cartilage; 100% penetrance
|
|
• fusion of the cartilaginous rings on the ventral side of the trachea and disruption of the rings
(J:12691)
• fusion between tracheal rings
(J:42773)
|
craniofacial
|
• fusion of the basioccipital bone to the anterior arch of the atlas
(J:12691)
• in 8 of 29 mice
(J:21009)
|
endocrine/exocrine glands
|
• 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
|
|
• prostate glands exhibit squamous metaplasia and/or keratinization of the glandular epithelia
|
|
• atrophy of seminal vesicles, with the characteristic mucosal folds and septa of the seminal often missing
|
|
• seminal vesicles exhibit squamous metaplasia and/or keratinization of the glandular epithelia
|
|
• bilateral absence of the Harderian gland epithelium in some mutants
|
vision/eye
|
• mutants often have closed and encrusted eyelids on one or both sides, first apparent around 2 weeks after birth
|
integument
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• at birth, no apparent defect is observed but in adult homozygotes, transepidermal water loss is increased by ~20%
|
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• in mutants neutral lipids are distributed unevenly along the cornified layer of the epidermis
|
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• 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
|
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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
|