Phenotypes Associated with This Genotype

Genotype
MGI:3664074

• Allelic Composition: Gbx2^tm1.1Mrt/Gbx2^tm1.1Mrt; Fgf8^tm1.4Mrt/Fgf8⁺
• Genetic Background: B6.129-Gbx2^tm1.1Mrt Fgf8^tm1.4Mrt

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

cardiovascular system

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

retroesophageal right subclavian artery ( J:100584 )

• 16.6% of mutant mice with cardiovascular defects exhibit a retroesophageal right subclavian artery vs 21% of single Gbx2^tm1Mrt homozygotes

interrupted aortic arch, type b ( J:100584 )

• 25% of mutant mice with cardiovascular defects exhibit an interrupted aortic arch (IAA) type B vs 26% of single Gbx2^tm1Mrt homozygotes

right aortic arch ( J:100584 )

• 58.3% of mutant mice with cardiovascular defects exhibit a right aortic arch (RAA) vs 37% of single Gbx2^tm1Mrt homozygotes

hematopoietic system

abnormal thymus development ( J:100584 )

• ~29% of mutant mice exhibit abnormal thymus development, either as a single-lobed thymus or as an overall reduction in thymus size (not observed in single Gbx2^tm1Mrt homozygotes or Fgf8^tm1.4Mrt heterozygotes)

immune system

abnormal thymus development ( J:100584 )

• ~29% of mutant mice exhibit abnormal thymus development, either as a single-lobed thymus or as an overall reduction in thymus size (not observed in single Gbx2^tm1Mrt homozygotes or Fgf8^tm1.4Mrt heterozygotes)

craniofacial

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

small mandible ( J:100584 )

• a few mutant mice display a reduced mandible

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

hearing/vestibular/ear

small ears ( J:100584 )

• a few mutant mice exhibit small external ears

skeleton

small mandible ( J:100584 )

• a few mutant mice display a reduced mandible

embryo

abnormal pharyngeal arch artery morphology ( J:100584 )

• mutant mice exhibit a significantly increased frequency, but not severity, of PAA-related cardiovascular defects relative to single Gbx2^tm1Mrt homozygotes (86% vs 39%, respectively)

• however, no incidences of a double outlet right ventricle or an overriding aorta are observed

abnormal neural crest cell migration ( J:100584 )

• at E9.5, mutant mice display a NCC migratory patterning defect similar to that of single Gbx2^tm1Mrt homozygotes

cellular

abnormal neural crest cell migration ( J:100584 )

• at E9.5, mutant mice display a NCC migratory patterning defect similar to that of single Gbx2^tm1Mrt homozygotes

endocrine/exocrine glands

abnormal thymus development ( J:100584 )

• ~29% of mutant mice exhibit abnormal thymus development, either as a single-lobed thymus or as an overall reduction in thymus size (not observed in single Gbx2^tm1Mrt homozygotes or Fgf8^tm1.4Mrt heterozygotes)

growth/size/body

small ears ( J:100584 )

• a few mutant mice exhibit small external ears