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Phenotypes Associated with This Genotype
Genotype
MGI:3574845
Allelic
Composition
Dsprul/Dsprul
Genetic
Background
RB156Bnr/Ei-Dsprul/GrsrJ
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dsprul mutation (1 available); any Dsp mutation (136 available)
phenotype observed in females
phenotype observed in males
N normal phenotype

6 month old Dsprul/Dsprul

integument
• homozygotes have a ruffled coat texture that appears disheveled and has some sparseness and slight curling of the hair
• ruffled looking coat apparent at 10 days of age; sparse hairs with some curling; coat is not lost with age (J:96444)
• 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
• vibrissae follicular dystrophy is found throughout the muzzle
• dorsal skin sections exhibit some acanthosis when compared with wild type
• separations at the epidermal/dermal border are found in and around the mouth and tongue of affected mice

craniofacial
• suprabasilar blister and pustule formation in the oral mucosa

digestive/alimentary system
• suprabasilar blister and pustule formation in the oral mucosa

growth/size/body
• suprabasilar blister and pustule formation in the oral mucosa

cardiovascular system
• prominant fibrotic lesions near the heart apex found at 34 weeks of age
• extensive areas of fibrosis are found in the left ventricular free wall at 34 weeks of age
• found in the left ventricular free wall and apex of the heart at 34 weeks of age
• 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

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


Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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last database update
11/12/2024
MGI 6.24
The Jackson Laboratory