Phenotypes Associated with This Genotype

Genotype
MGI:3574845

• Allelic Composition: Dsp^rul/Dsp^rul
• Genetic Background: RB156Bnr/Ei-Dsp^rul/GrsrJ

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

6 month old Dsp^rul/Dsp^rul

integument

sparse hair ( J:217650 )

abnormal hair texture ( J:217650 )

• homozygotes have a ruffled coat texture that appears disheveled and has some sparseness and slight curling of the hair

disheveled coat ( J:217650 )

ruffled hair ( J:96444 , J:217650 )

• ruffled looking coat apparent at 10 days of age; sparse hairs with some curling; coat is not lost with age (J:96444)

abnormal hair shaft morphology ( J:217650 )

• 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

abnormal hair medulla ( J:217650 )

abnormal hair medullary septa cells ( J:217650 )

abnormal vibrissa follicle morphology ( J:217650 )

• vibrissae follicular dystrophy is found throughout the muzzle

acanthosis ( J:217650 )

• dorsal skin sections exhibit some acanthosis when compared with wild type

dermal-epidermal separation ( J:217650 )

• separations at the epidermal/dermal border are found in and around the mouth and tongue of affected mice

craniofacial

oral mucosa blisters ( J:217650 )

• suprabasilar blister and pustule formation in the oral mucosa

digestive/alimentary system

oral mucosa blisters ( J:217650 )

• suprabasilar blister and pustule formation in the oral mucosa

growth/size/body

oral mucosa blisters ( J:217650 )

• suprabasilar blister and pustule formation in the oral mucosa

cardiovascular system

abnormal heart apex morphology ( J:217650 )

• prominant fibrotic lesions near the heart apex found at 34 weeks of age

abnormal heart left ventricle morphology ( J:217650 )

• extensive areas of fibrosis are found in the left ventricular free wall at 34 weeks of age

cardiac fibrosis ( J:217650 )

• found in the left ventricular free wall and apex of the heart at 34 weeks of age

decreased heart rate ( J:217650 )

abnormal heart electrocardiography waveform feature ( J:217650 )

• 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

prolonged RR interval ( J:217650 )

prolonged QRS complex duration ( J:217650 )

abnormal R wave ( J:217650 )

abnormal T wave ( J:217650 )

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
Carvajal syndrome		DOID:0090128	OMIM:605676	J:217650