Phenotypes associated with this allele
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation
(0 available);
any
Dchs1 mutation
(139 available)
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cardiovascular system
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• severe mitral-valve shape changes are seen at E15.5-E17.5, with changes in valve length and width at E17.5
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation
(0 available);
any
Dchs1 mutation
(139 available)
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mortality/aging
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• if wild-type littermates are removed some mice can survive for a couple of weeks
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growth/size/body
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• apparent decrease in the number and size of cysts compared to Fat4 homozygous null mice
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• fail to grow, remaining the similar in size to newborn pups, but do show some signs of postnatal development
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hearing/vestibular/ear
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• about 20% shorter than in wild-type controls
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• subtle (less than 2 degrees) differences in the average orientation of stereocilia
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nervous system
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• modest increase in the width to height ratio
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• subtle (less than 2 degrees) differences in the average orientation of stereocilia
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renal/urinary system
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• apparent decrease in the number and size of cysts compared to Fat4 homozygous null mice
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• at E15.5 a modest but significant increase in the number of cells around the
circumference of distal collecting ducts is detected
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• striking clusters of apoptotic cells are detected in the epithelium and mesenchyme as early as E11.5
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• difference in size is first detectable at E11.5 and the difference increases until E13.5 then remains fairly consistent from E15.5 to P0
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• slightly less straight at P0
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• by E11.5 branching of the ureteric epithelium in mutants lags behind that of wild-type littermates
• by 12.5 kidney growth and branching are substantially decreased and the ureteric epithelium is wider and more irregular than in wild-type littermates
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skeleton
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• often have a bent spine
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• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis
• the centrum at the midline is malformed
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• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis
• the centrum at the midline is malformed
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• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
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• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
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• abnormal ossification pattern
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limbs/digits/tail
cardiovascular system
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• the septum primum is often thinner and the ostium secundum is much larger than in wild-type littermates
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digestive/alimentary system
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• on average total intestinal length is about 72% that of wild-type littermates
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respiratory system
embryo
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• modest increase in the width to height ratio
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Allelic Composition |
Dchs1tm1.2Irv/Dchs1+
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Genetic Background |
involves: 129S7/SvEvBrd * C57BL/6 |
|
Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation
(0 available);
any
Dchs1 mutation
(139 available)
|
|
|
cardiovascular system
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• changes in mitral-valve shape are seen at E15.5-E17.5, but not at E11.5-E13.5, with changes in valve length and width at E17.
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• myxomatous degeneration with increased proteoglycan accumulation in both mitral leaflets
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• prominent posterior leaflet thickening with increases in valve volume in adults
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• mitral valve prolapse with pronounced involvement of the posterior leaflet, which is elongated and shifts the leaflet coaptation anteriorly
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Find Mice |
Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Dchs1tm1.2Irv mutation
(0 available);
any
Dchs1 mutation
(139 available)
Fat4tm1.1Hmc mutation
(1 available);
any
Fat4 mutation
(223 available)
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hearing/vestibular/ear
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• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia
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• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia
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nervous system
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• increase in the width to height ratio
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• mostly subtle (less than 2 degrees) differences in the average orientation of stereocilia
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• in the outermost row of hair cells there is a 4 degree difference in the average orientation of stereocilia
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skeleton
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• vertebrae in the lumbar and posterior thoracic regions show a modest increase in the width and are narrower along the anterior-posterior axis
• the centrum at the midline is malformed
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• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
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• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions
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• abnormal ossification pattern
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respiratory system
embryo
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• increase in the width to height ratio
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