Phenotypes for Acvr2b MGI:2654122 MGI Mouse

postnatal lethality, complete penetrance ( J:42018 )

• Background Sensitivity: on the 129S4 background, no homozygotes are seen at weaning

postnatal lethality, incomplete penetrance ( J:42018 )

• on a mixed 129S4 and C57BL/6 background, 30% survive past weaning and these are viable and fertile

abnormal cardiac outflow tract development ( J:42018 )

• Background Sensitivity: all mice on the 129S4 background and 60% on the mixed 129S4 and C57BL/6 background exhibit defects in the patterning of the outflow tract

abnormal heart development ( J:42018 )

abnormal direction of heart looping ( J:42018 )

• abnormal looping of the descending aorta on a 129S4 background, with 51% showing looping toward the right instead of the left as in wild-type

transposition of great arteries ( J:42018 )

• the two great arteries are located in abnormal positions

• the aorta arises from the anterior-most position of the heart and the pulmonary trunk is located posterior to and on either the left or right side of the aorta

• the pulmonary trunk and the aorta are in parallel positions without crossing over each other

atrial septal defect ( J:42018 )

abnormal heart position or orientation ( J:42018 )

• on the 129S4 background, the apex of the heart points in a random direction instead of to the left

right atrial isomerism ( J:42018 )

• some mutants show left superior vena cava connected to the left atrium

• 30% of homozygotes on the 129S4 background show right atrial isomerism

dextrocardia ( J:42018 )

• Background Sensitivity: seen in 30% of mice on a 129S4 background and a lower frequency in mice on the mixed 129S4 and C57BL/6 background

mesocardia ( J:42018 )

• Background Sensitivity: seen in 30% of mice on a 129S4 background

ventricular septal defect ( J:42018 )

abnormal spleen morphology ( J:42018 )

• abnormally shaped spleen

small spleen ( J:42018 )

cyanosis ( J:42018 )

renal hypoplasia ( J:42018 )

• Background Sensitivity: 80% and 53% of homozygotes on the 129S4 and the mixed 129S4 and C57BL/6 backgrounds, respectively, show renal hypoplasia

absent kidney ( J:42018 )

• exhibit a spectrum of renal abnormalities including uni- or bilateral agenesis

single kidney ( J:42018 )

• exhibit a spectrum of renal abnormalities including uni- or bilateral agenesis

right pulmonary isomerism ( J:42018 )

• Background Sensitivity: 100% of homozygotes exhibit right pulmonary isomerism (RPI) and cardiac malformations on the 129S4 background, while on the mixed 129S4 and C57BL/6 background, all homozygotes with outflow tract defects show RPI, whereas all viable mice have normal hearts and lungs

• the left lung has four lobes, in mirror image to the right lung

abnormal bronchus morphology ( J:42018 )

• morphology and branching patterns of the bronchi appear to be bilaterally symmetric, and in most cases, both bronchi are eparterial

abnormal rib morphology ( J:42018 )

• have 9 vertebrosternal ribs and 7 free ribs

rib fusion ( J:42018 )

• frequently the first rib (T1) on vertebra 8 (V8) is fused to the second rib (T2) on the ventral side and connected to the sternum at the T2 position

increased thoracic vertebrae number ( J:42018 )

• have 16, instead of 13, thoracic vertebrae, displaying the C7/T16/L6 vertebral configuration

thoracic vertebral transformation ( J:42018 )

• shape of the dorsal side of V9 (T2) vertebra is similar to that of V8 (T1) of wild-type

• the largest spinous process, a characteristic of V9 (T2) vertebra, is present at V10 (T3)

• the transition of the spinous process shape occurs at V18 and V20, instead of at V16 and V17, as in wild-type

• spinous process of V19 pints in the posterior direction although its shape looks similar to V17

• last pair of thoracic ribs are attached to V23 instead of V20

abnormal liver morphology ( J:42018 )

• although the liver has the same number and patterns of lobes as wild-type, the shape of some lobes is slightly altered