Phenotypes Associated with This Genotype

Genotype
MGI:2172132

• Allelic Composition: Shh^tm1Amc/Shh^tm1Amc
• Genetic Background: Not Specified

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

mortality/aging

neonatal lethality, complete penetrance ( J:91723 )

• homozygous mutants die shortly after birth

digestive/alimentary system

tracheoesophageal fistula ( J:91723 )

• a single tracheal-esophageal tube lacking any cartilaginous rings is seen

• this tube is lined with stratified squamous epithelium dorsally and columnar airway epithelium ventrally

small stomach ( J:98520 )

• reduced stomach size, particularly in the fore-stomach, at E12.5

respiratory system

tracheoesophageal fistula ( J:91723 )

• a single tracheal-esophageal tube lacking any cartilaginous rings is seen

• this tube is lined with stratified squamous epithelium dorsally and columnar airway epithelium ventrally

abnormal branching involved in lung morphogenesis ( J:91723 )

• branching morphogenesis is impaired with the single tracheal-esophageal tube connected to the proximal and peripheral lung structures

pulmonary hypoplasia ( J:91723 )

• lungs are severely hypoplastic

• the anterior closed pharynx connects to a posteroir bilobed lung in which the central airway is surrounded only by rudimentary peripheral saccules

abnormal bronchus morphology ( J:91723 )

• peripheral tubules are absent

abnormal pharynx morphology ( J:91723 )

• the pharynx is closed anteriorly

absent tracheal cartilage rings ( J:91723 )

• the cartilaginous rings that normally surround the trachea are absent

skeleton

absent tracheal cartilage rings ( J:91723 )

• the cartilaginous rings that normally surround the trachea are absent