Phenotypes Associated with This Genotype

Genotype
MGI:5301620

• Allelic Composition: Atxn1l^tm2.1Hzo/Atxn1l^tm2.1Hzo
• Genetic Background: involves: 129S7/SvEvBrd * C57BL/6J

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

mortality/aging

neonatal lethality, incomplete penetrance ( J:178303 )

• less than 20% of pups die within 3 h of birth

homeostasis/metabolism

cyanosis ( J:178303 )

• less than 20% of pups of cyanotic and die within 3 h of birth

respiratory system

abnormal pulmonary alveolar sac morphology ( J:178303 )

• air space enlargement in 65% of mice at the late alveolar stage (P17-P23)

abnormal pulmonary alveolus morphology ( J:178303 )

• decrease in the area occupied by elastic fibrils within the alveolar walls in symptomatic mice at 7 to 9 months of age

growth/size/body

omphalocele ( J:178303 )

• in 1 of 24 embryos

nervous system

enlarged lateral ventricles ( J:178303 )

• at birth in 1 of 9 pups

enlarged third ventricle ( J:178303 )

• at birth in 1 of 9 pups