Phenotypes Associated with This Genotype

Genotype
MGI:3054652

• Allelic Composition: Col19a1^tm1Rmz/Col19a1^tm1Rmz
• Genetic Background: involves: 129S1/Sv * 129T2/SvEmsJ * 129X1/SvJ

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:92510 )

• about 95% of homozygotes die before weaning probably from malnourishment

behavior/neurological

dysphagia ( J:92510 )

• basal muscle tone is increased, relaxation upon swallowing is impaired, and strips of esophgeal muscle fail to relax in response to electrical field stimulation in mutants

digestive/alimentary system

dysphagia ( J:92510 )

• basal muscle tone is increased, relaxation upon swallowing is impaired, and strips of esophgeal muscle fail to relax in response to electrical field stimulation in mutants

abnormal esophagus morphology ( J:92510 )

abnormal esophagus development ( J:92510 )

• transdifferentiation of smooth to skeletal muscle fails to occur along the entire abdominal segment of the esophagus in mutants

abnormal esophageal smooth muscle morphology ( J:92510 )

• thicker basement membranes, convoluted profiles, excessive extracellular callagen fibers, and irregular intercellular spaces are seen in lower esophageal sphincter smooth muscle cells

dilated esophagus ( J:92510 )

• surviving homozygotes have a dilated esophagus with retention of ingested material

growth/size/body

weight loss ( J:92510 )

• homozygotes that survive beyond weaning display weight loss

muscle

abnormal esophageal smooth muscle morphology ( J:92510 )

• thicker basement membranes, convoluted profiles, excessive extracellular callagen fibers, and irregular intercellular spaces are seen in lower esophageal sphincter smooth muscle cells