Analysis Tools
integument
sparse hair
(
J:217650
)
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• homozygotes have a ruffled coat texture that appears disheveled and has some sparseness and slight curling of the hair
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• ruffled looking coat apparent at 10 days of age; sparse hairs with some curling; coat is not lost with age
(J:96444)
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• in horizontal sections the hair shafts are larger in diameter than normal with loss of concentric layering, and in vertical sections there are swellings of the hair shaft with loss of the septulation pattern of the medulla and a pointed tip
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• vibrissae follicular dystrophy is found throughout the muzzle
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acanthosis
(
J:217650
)
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• dorsal skin sections exhibit some acanthosis when compared with wild type
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• separations at the epidermal/dermal border are found in and around the mouth and tongue of affected mice
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craniofacial
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• suprabasilar blister and pustule formation in the oral mucosa
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digestive/alimentary system
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• suprabasilar blister and pustule formation in the oral mucosa
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growth/size/body
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• suprabasilar blister and pustule formation in the oral mucosa
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cardiovascular system
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• prominant fibrotic lesions near the heart apex found at 34 weeks of age
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• extensive areas of fibrosis are found in the left ventricular free wall at 34 weeks of age
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• found in the left ventricular free wall and apex of the heart at 34 weeks of age
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• longer RR and QRS intervals, smaller R wave and T wave amplitudes, and ECG readings indicative of a form of atrial tachycardia are found in homozygotes compared with heterozgyotes at 4 weeks of age
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Mouse Models of Human Disease |
DO ID | OMIM ID(s) | Ref(s) | |
| Carvajal syndrome | DOID:0090128 |
OMIM:605676 |
J:217650 | |
