Phenotypes Associated with This Genotype

Genotype
MGI:5605499

• Allelic Composition: Ift27^{tm1b(EUCOMM)Hmgu}/Ift27^{tm1b(EUCOMM)Hmgu}
• Genetic Background: involves: 129S4/SvJae * C57BL/6J * C57BL/6N

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

mortality/aging

perinatal lethality, incomplete penetrance ( J:215449 )

• stillborn or die shortly after birth

vision/eye

ocular hypotelorism ( J:215449 )

• close spaced eyes

homeostasis/metabolism

cyanosis ( J:215449 )

• cyanotic at birth

embryo

umbilical hernia ( J:215449 )

growth/size/body

abnormal jaw morphology ( J:215449 )

abnormal incisor morphology ( J:215449 )

• lack development

small mandible ( J:215449 )

• body of the mandible is smaller

micrognathia ( J:215449 )

• variable severity

midface hypoplasia ( J:215449 )

• midline hypoplasia affecting nasal, maxilla, mandible

abnormal mouth morphology ( J:215449 )

abnormal palate morphology ( J:215449 )

• lacks development

abnormal tongue morphology ( J:215449 )

absent tongue ( J:215449 )

• sometimes

decreased tongue size ( J:215449 )

• sometimes

abnormal nose morphology ( J:215449 )

• oddly shaped nose

abnormal nasal septum morphology ( J:215449 )

• malformed nasal septum

abnormal vomeronasal organ morphology ( J:215449 )

• lacks development

omphalocele ( J:215449 )

lung cyst ( J:215449 )

• balloon-like cavities arising from bronchial airways

• sometimes project through diaphragm and connect to the stomach

abdominal situs ambiguus ( J:215449 )

• randomized visceral organ situs

limbs/digits/tail

abnormal limb morphology ( J:215449 )

• occasional abnormal flexure of the wrist leading to a clubbing phenotype

craniofacial

abnormal jaw morphology ( J:215449 )

abnormal incisor morphology ( J:215449 )

• lack development

small mandible ( J:215449 )

• body of the mandible is smaller

micrognathia ( J:215449 )

• variable severity

midface hypoplasia ( J:215449 )

• midline hypoplasia affecting nasal, maxilla, mandible

abnormal mouth morphology ( J:215449 )

abnormal palate morphology ( J:215449 )

• lacks development

abnormal tongue morphology ( J:215449 )

absent tongue ( J:215449 )

• sometimes

decreased tongue size ( J:215449 )

• sometimes

abnormal nose morphology ( J:215449 )

• oddly shaped nose

abnormal nasal septum morphology ( J:215449 )

• malformed nasal septum

abnormal vomeronasal organ morphology ( J:215449 )

• lacks development

skeleton

abnormal jaw morphology ( J:215449 )

abnormal incisor morphology ( J:215449 )

• lack development

small mandible ( J:215449 )

• body of the mandible is smaller

micrognathia ( J:215449 )

• variable severity

misaligned sternebrae ( J:215449 )

abnormal rib morphology ( J:215449 )

• malformed

respiratory system

abnormal nose morphology ( J:215449 )

• oddly shaped nose

abnormal nasal septum morphology ( J:215449 )

• malformed nasal septum

abnormal vomeronasal organ morphology ( J:215449 )

• lacks development

abnormal lung morphology ( J:215449 )

lung cyst ( J:215449 )

• balloon-like cavities arising from bronchial airways

• sometimes project through diaphragm and connect to the stomach

abnormal lung position or orientation ( J:215449 )

• lung isomerism

abnormal trachea morphology ( J:215449 )

• fusions between trachea and esophagus are frequent

cardiovascular system

abnormal blood vessel morphology ( J:215449 )

pulmonary trunk hypoplasia ( J:215449 )

abnormal aortic arch morphology ( J:215449 )

• various defects

double aortic arch ( J:215449 )

dual inferior vena cava ( J:215449 )

abnormal atrioventricular cushion morphology ( J:215449 )

• defective development

double outlet right ventricle with atrioventricular septal defect ( J:215449 )

common atrium ( J:215449 )

• common atrium

digestive/alimentary system

abnormal palate morphology ( J:215449 )

• lacks development

abnormal tongue morphology ( J:215449 )

absent tongue ( J:215449 )

• sometimes

decreased tongue size ( J:215449 )

• sometimes

nervous system

abnormal vomeronasal organ morphology ( J:215449 )

• lacks development