Phenotypes Associated with This Genotype

Genotype
MGI:3033851

• Allelic Composition: Rara^tm1Ipc/Rara^tm1Ipc; Rarb^tm1Ipc/Rarb⁺
• Genetic Background: involves: 129S2/SvPas

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

cardiovascular system

persistent right dorsal aorta ( J:21034 )

• at E18.5 the right dorsal aortic root which is normally lost persists (2 out of 3)

absent fetal ductus arteriosus ( J:21034 )

• the normal fetal connection between the aorta and the main pulmonary artery (ductus arteriosus) is also absent in mice with persistent truncus arteriosus and is thought to be secondary to this condition

persistent truncus arteriosus ( J:21034 )

• this defect was detected in 2 of 4 mutants at E18.5

perimembraneous ventricular septal defect ( J:21034 )

• in mice with persistent truncus arteriosus defects are also found in the membranous portion of the ventricular septum but not in the muscular portion of the septum at E18.5 (3 out of 4)

renal/urinary system

renal glomerulus hypertrophy ( J:21034 )

• abnormally large glomeruli are found in the cortical region of hypoplastic kidneys

absent nephrogenic zone ( J:21034 )

• the nephrogenic zone of the cortex is absent in hypoplastic kidneys

renal hypoplasia ( J:21034 )

• kidneys are smaller than normal due to bilateral hypoplasia; however, division of the kidney into cortical and medullary regions is still present at E18.5 (3 out of 4)

• kidney hypoplasia is less severe than in double homozygous mice

abnormal renal tubule morphology ( J:21034 )

• abnormally convoluted tubules are found in the cortical region of hypoplastic kidneys

ectopic kidney ( J:21034 )

• hypoplastic kidneys are often ectopic being located in the lower lumbar or sacral regions rather than in the normal upper lumbar site

respiratory system

abnormal respiratory system morphology ( J:21034 )

• multiple defects in tissues derived from the primitive thoracic foregut and associated later mesoderm including the lung parenchyma, tracheobronchial tree, larynx, pharynx, and esophagus were found at E18.5.

• the morphology of the cartilages that make up the larynx and trachea were not examined in these mice

pulmonary hypoplasia ( J:21034 )

• the right and left lungs are hypoplastic (2 out of 4)

• unlike in double homozygous mice the left lung is present but hypoplastic