Phenotypes Associated with This Genotype

Genotype
MGI:2180464

• Allelic Composition: Itga3^tm1Jak/Itga3^tm1Jak
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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

mortality/aging

neonatal lethality, complete penetrance ( J:36831 )

• mice become progressively weak and dehydrated and die within 24 hours of birth

renal/urinary system

decreased glomerular capillary number ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

dilated glomerular capillary ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

kidney cyst ( J:36831 )

• microcystic changes such as thin epithelial walls and dilated lumina are seen in a subset of proximal tubules

abnormal kidney collecting duct morphology ( J:36831 )

• the packing of collecting ducts is not as tight as in wild-type and a stromal component is seen in the papilla

decreased kidney collecting duct number ( J:36831 )

• number of cortical collecting ducts appears decreased

• a 2-fold reduction in the number of medullary collecting ducts is seen

• however, nephron numbers are similar to wild-type

abnormal podocyte morphology ( J:36831 )

• increased loss of podocyte lateral cell junctions during capillary loop formation

absent podocyte foot process ( J:36831 )

• foot process formation is absent and podocyte cell bodies are mainly found in the periphery of the glomeruli

abnormal renal glomerulus basement membrane morphology ( J:36831 )

• glomerular basement membranes are disorganized and widened and in some areas fusion of the basement membranes produced by the podocyte and underlying endothelial cells fails to occur

increased renal glomerulus basement membrane thickness ( J:36831 )

• glomerular basement membranes are widened

small kidney ( J:36831 )

• slightly smaller kidney

abnormal distal convoluted tubule morphology ( J:36831 )

• distal tubules are decreased in length

abnormal proximal convoluted tubule morphology ( J:36831 )

• proximal tubules are decreased in length

• two subsets of abnormal proximal tubules are seen, one contains abundant cytoplasmic lysosomes and vacuoles and the second displays microcystic changes such as thin epithelial walls and dilated lumina

respiratory system

impaired branching involved in bronchus morphogenesis ( J:36831 )

• the number of branches arising from the mainstem bronchi is decreased, and large bronchi extend to the periphery

• however, alveolar formation is normal

abnormal bronchiole epithelium morphology ( J:36831 )

• most bronchiolar epithelial cells appear immature with a cuboidal morphology unlike the flattened morphology of wild-type cells

cardiovascular system

decreased glomerular capillary number ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

dilated glomerular capillary ( J:36831 )

• mature glomeruli have decreased numbers of capillary loops, with widened lumina

homeostasis/metabolism

dehydration ( J:36831 )

• mice become progressively dehydrated prior to death

growth/size/body

kidney cyst ( J:36831 )

• microcystic changes such as thin epithelial walls and dilated lumina are seen in a subset of proximal tubules