Phenotypes Associated with This Genotype

Genotype
MGI:5493419

• Allelic Composition: Smpd3^fro/Smpd3^fro
• Genetic Background: involves: C3H/HeN * C57BL/6N

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:193949 )

• Background Sensitivity: 88% of mutants survive past weaning; this survival rate is much higher than on either the C57BL/6N or C3H/HeN congenic background

limbs/digits/tail

abnormal limb morphology ( J:193949 )

• limb deformities

respiratory system

abnormal pulmonary alveolus morphology ( J:193949 )

• increase in mean linear intercept, indicating greater distance between alveolar septa across the lungs and fewer septa

overexpanded pulmonary alveolus ( J:193949 )

• increase in distal airspace size in 6 week old mutants

emphysema ( J:193949 )

• increase in the number of alveoli showing emphysematous changes, indicating development of a lung disorder similar to emphysema

increased lung compliance ( J:193949 )

• mutants show increased compliance of the respiratory system

homeostasis/metabolism

abnormal lipid level ( J:193949 )

• decrease in the level of ceramide C14:0 in the lungs and bone