Phenotypes Associated with This Genotype

Genotype
MGI:3053114

• Allelic Composition: Sox11^tm1Weg/Sox11^tm1Weg
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

mortality/aging

neonatal lethality, complete penetrance ( J:92251 )

• pups became cyanotic and died shortly after birth

cardiovascular system

abnormal truncus arteriosus septation ( J:92251 )

• at E18.5, a single arterial trunk is frequently observed in mutant embryos which originates from the right ventricle and is continuous with the descending aorta; controls show a clearly separated pulmonary trunk and aorta at this stage

persistent truncus arteriosus ( J:92251 )

• at E18.5, 5 of 6 embryos have a single arterial trunk with the remaining embryo displaying double outlet right ventricle

ventricular septal defect ( J:92251 )

• the ventricular septum fails to close by E13.5 and this defect can still be seen at E14.5 and E18.5

craniofacial

abnormal pterygoid process morphology ( J:92251 )

• defects are seen in the pterygoid process

maxilla hypoplasia ( J:92251 )

• at E18.5 the maxillary bones are severely underdeveloped

palatal shelves fail to meet at midline ( J:92251 )

• in embryos without visible lip and jaw clefting the palatine shelves often fail to fuse with the primary palate or each other anteriorly

cleft upper lip ( J:92251 )

• about 70% of embryos display clefting of the upper jaw and lip

median cleft palate ( J:92251 )

• all embryos with a cleft lip also had a cleft palate in which the palatine shelves of the maxillary bones failed to fuse along the entire midline

digestive/alimentary system

palatal shelves fail to meet at midline ( J:92251 )

• in embryos without visible lip and jaw clefting the palatine shelves often fail to fuse with the primary palate or each other anteriorly

median cleft palate ( J:92251 )

• all embryos with a cleft lip also had a cleft palate in which the palatine shelves of the maxillary bones failed to fuse along the entire midline

abnormal stomach pyloric region morphology ( J:92251 )

• the pyloric constriction is malformed

small stomach ( J:92251 )

• at E13.5 the stomach is hypomorphic with the caudal parts including the pylorus and corpus most affected

endocrine/exocrine glands

abnormal pancreas morphology ( J:92251 )

• at E13.5 the pancreas is hypomorphic

growth/size/body

palatal shelves fail to meet at midline ( J:92251 )

• in embryos without visible lip and jaw clefting the palatine shelves often fail to fuse with the primary palate or each other anteriorly

cleft upper lip ( J:92251 )

• about 70% of embryos display clefting of the upper jaw and lip

median cleft palate ( J:92251 )

• all embryos with a cleft lip also had a cleft palate in which the palatine shelves of the maxillary bones failed to fuse along the entire midline

decreased birth weight ( J:92251 )

• at birth mutants weigh 23% less than wild-type and heterozygous littermates

omphalocele ( J:92251 )

• at E18.5, 35% of mutant embryos display an omphalocele

barrel chest ( J:92251 )

• abnormal curvature of the ribs results in a barrel chest

hematopoietic system

absent spleen ( J:92251 )

• at E13.5 asplenia is seen in all mutant embryos

homeostasis/metabolism

cyanosis ( J:92251 )

immune system

absent spleen ( J:92251 )

• at E13.5 asplenia is seen in all mutant embryos

limbs/digits/tail

abnormal phalanx morphology ( J:92251 )

• as a result of ossification defects the condensing bones of the phalanges are reduced or absent in the hindlimbs at E18.5

abnormal calcaneum morphology ( J:92251 )

• ossification of the calcaneus is delayed

abnormal talus morphology ( J:92251 )

• ossification of the talus is delayed

abnormal caudal vertebrae morphology ( J:92251 )

• in 15% of embryos defects in the caudal vertebrae result in a tail curl

curly tail ( J:92251 )

• a curly tail is seen in 15% of mutants

respiratory system

pulmonary hypoplasia ( J:92251 )

• hypoplasia is seen in all lobes of the lung

abnormal bronchus morphology ( J:92251 )

• the diameter of the bronchi are reduced and the number of cell layers between adjacent bronchi is increased

decreased pulmonary respiratory rate ( J:92251 )

• only sporadic breathing is seen

skeleton

abnormal pterygoid process morphology ( J:92251 )

• defects are seen in the pterygoid process

maxilla hypoplasia ( J:92251 )

• at E18.5 the maxillary bones are severely underdeveloped

abnormal phalanx morphology ( J:92251 )

• as a result of ossification defects the condensing bones of the phalanges are reduced or absent in the hindlimbs at E18.5

abnormal calcaneum morphology ( J:92251 )

• ossification of the calcaneus is delayed

abnormal talus morphology ( J:92251 )

• ossification of the talus is delayed

abnormal caudal vertebrae morphology ( J:92251 )

• in 15% of embryos defects in the caudal vertebrae result in a tail curl

abnormal sternebra morphology ( J:92251 )

• at E18.5 ossification centers were reduced in size in the sternebrae

asymmetric sternocostal joints ( J:92251 )

• attachment of the ribs to the sternum is irregular and follows the pattern of abnormalities in the ossification centers

abnormal rib morphology ( J:92251 )

• the 13th rib is often reduced in size and occasionally absent

• abnormal curvature of the ribs is seen resulting in a barrel chest

increased rib number ( J:92251 )

• occasionally rudiments of a 14th rib pair are seen on the lumbar vertebra regardless of the presence or absence of the 13th rib

abnormal lumbar vertebrae morphology ( J:92251 )

• occasionally rudiments of a 14th rib pair are seen on the lumbar vertebra

abnormal bone ossification ( J:92251 )

• impaired endochondral or transmembranous ossification is seen in cranial and noncranial bones resulting in reduced bone size and density

abnormal sternum ossification ( J:92251 )

• at E18.5 ossification centers were reduced in size in the sternebrae

vision/eye

abnormal eyelid morphology ( J:92251 )

• 97% of mutants have an eyelid closure defect of variable severity