Phenotypes Associated with This Genotype

Genotype
MGI:4941821

• Allelic Composition: Dchs1^tm1.2Irv/Dchs1^tm1.2Irv
• Genetic Background: involves: 129S/Sv * C57BL/6 * CBA

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

mortality/aging

perinatal lethality, complete penetrance ( J:169135 )

postnatal lethality, complete penetrance ( J:169135 )

• if wild-type littermates are removed some mice can survive for a couple of weeks

growth/size/body

kidney cyst ( J:169135 )

• apparent decrease in the number and size of cysts compared to Fat4 homozygous null mice

postnatal growth retardation ( J:169135 )

• fail to grow, remaining the similar in size to newborn pups, but do show some signs of postnatal development

hearing/vestibular/ear

abnormal cochlea morphology ( J:169135 )

• about 20% shorter than in wild-type controls

abnormal orientation of cochlear hair cell stereociliary bundles ( J:169135 )

• subtle (less than 2 degrees) differences in the average orientation of stereocilia

nervous system

abnormal neural tube morphology ( J:169135 )

• modest increase in the width to height ratio

abnormal orientation of cochlear hair cell stereociliary bundles ( J:169135 )

• subtle (less than 2 degrees) differences in the average orientation of stereocilia

renal/urinary system

kidney cyst ( J:169135 )

• apparent decrease in the number and size of cysts compared to Fat4 homozygous null mice

abnormal kidney collecting duct morphology ( J:169135 )

• at E15.5 a modest but significant increase in the number of cells around the circumference of distal collecting ducts is detected

dilated kidney collecting duct ( J:169135 )

• slightly dilated at P0

abnormal kidney development ( J:169135 )

• striking clusters of apoptotic cells are detected in the epithelium and mesenchyme as early as E11.5

small kidney ( J:169135 )

• 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

abnormal renal tubule morphology ( J:169135 )

• slightly less straight at P0

dilated renal tubule ( J:169135 )

• slightly dilated at P0

impaired branching involved in ureteric bud morphogenesis ( J:169135 )

• 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

skeleton

short sternum ( J:169135 )

• shorter than normal

wide sternum ( J:169135 )

• wider than normal

abnormal spine curvature ( J:169135 )

• often have a bent spine

abnormal vertebrae morphology ( J:169135 )

abnormal thoracic vertebrae morphology ( J:169135 )

• 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

abnormal lumbar vertebrae morphology ( J:169135 )

• 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

abnormal vertebrae development ( J:169135 )

• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions

abnormal endochondral bone ossification ( J:169135 )

• dual ossification centers are present in vertebrae in the lumbar and posterior thoracic regions

abnormal sternum ossification ( J:169135 )

• abnormal ossification pattern

limbs/digits/tail

curly tail ( J:169135 )

• often seen

cardiovascular system

abnormal interatrial septum morphology ( J:169135 )

• the septum primum is often thinner and the ostium secundum is much larger than in wild-type littermates

digestive/alimentary system

abnormal intestine morphology ( J:169135 )

• on average total intestinal length is about 72% that of wild-type littermates

respiratory system

small lung ( J:169135 )

embryo

abnormal neural tube morphology ( J:169135 )

• modest increase in the width to height ratio