Phenotypes Associated with This Genotype

Genotype
MGI:3033885

cx4

• Allelic Composition: Rara^tm2Ipc/Rara^tm2Ipc; Rara^tm1Ipc/Rara⁺; Rarg^tm1Ipc/Rarg^tm1Ipc
• Genetic Background: involves: 129S2/SvPas

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

mortality/aging

perinatal lethality ( J:21034 )

cardiovascular system

abnormal cardiovascular system morphology ( J:21034 )

• abnormalities of the heart and abnormalities of the great vessels related to aortic arch patterning defects similar to those seen in offspring of vitamin A deficient rats were seen in these mice at E18.5

persistent right dorsal aorta ( J:21034 )

• the right dorsal aortic root that is normally lost persists (2 out of 5)

abnormal fourth pharyngeal arch artery morphology ( J:21034 )

• the right 4th aortic arch that normally persists is lost (2 out of 5)

double outlet right ventricle ( J:21034 )

• dextroposed ascending aorta - the aorta originates from the right ventricle (2 out of 5)

abnormal interventricular septum membranous part morphology ( J:21034 )

• associated with dextroposition of the aorta, defects are also found in the membranous portion of the ventricular septum but not in the muscular portion of the septum (3 out of 5)

abnormal aortic valve morphology ( J:21034 )

• associated with the defect in aortic morphology the aortic valve has 4 cusps

endocrine/exocrine glands

ectopic parathyroid gland ( J:21034 )

• the parathyroid glands were rostrally displaced and not associated with the thyroid gland

renal/urinary system

renal hypoplasia ( J:21034 )

• the kidneys are smaller than normal due to bilateral hypoplasia however division of the kidney into cortical and medullary regions is still present (2 out of 5)

respiratory system

abnormal respiratory system morphology ( J:21034 )

• multiple defects in the cartilages that make up the skeleton of, the trachea, the extrapulmonary bronchi, and the larynx were found at E18.5

abnormal arytenoid cartilage morphology ( J:21034 )

• the arytenoid cartilage is smaller than normal (11 out of 11)

abnormal cricoid cartilage morphology ( J:21034 )

• the shape of the cricoid cartilage is abnormal (11 out of 11)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (11 out of 11)

small thyroid cartilage ( J:21034 )

• the thyroid cartilage is smaller than normal (11 out of 11)

fused bronchial cartilage rings ( J:21034 )

• detailed examination revealed that the cartilages in the caudal portion of the stem bronchi are fused (11 out of 11)

absent tracheal cartilage rings ( J:21034 )

• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (11 out of 11)

skeleton

abnormal arytenoid cartilage morphology ( J:21034 )

• the arytenoid cartilage is smaller than normal (11 out of 11)

abnormal cricoid cartilage morphology ( J:21034 )

• the shape of the cricoid cartilage is abnormal (11 out of 11)

cricoid and tracheal cartilage fusion ( J:21034 )

• the cricoid cartilage is abnormally fused to the tracheal rings (11 out of 11)

small thyroid cartilage ( J:21034 )

• the thyroid cartilage is smaller than normal (11 out of 11)

absent tracheal cartilage rings ( J:21034 )

• the tracheal cartilage rings are absent and are replaced by ventral cartilage and cartilaginous nodules (11 out of 11)

craniofacial

abnormal fourth pharyngeal arch artery morphology ( J:21034 )

• the right 4th aortic arch that normally persists is lost (2 out of 5)

embryo

abnormal fourth pharyngeal arch artery morphology ( J:21034 )

• the right 4th aortic arch that normally persists is lost (2 out of 5)