Phenotypes Associated with This Genotype

Genotype
MGI:3608986

• Allelic Composition: Fut8^tm1Nta/Fut8^tm1Nta
• Genetic Background: involves: 129S2/SvPas

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

Growth retardation in Fut8^tm1Nta/Fut8^tm1Nta mice

mortality/aging

postnatal lethality, incomplete penetrance ( J:102932 )

• about 70% die within 3 days of age

growth/size/body

postnatal growth retardation ( J:102932 )

• most homozygotes surviving past 3 days of age manifest severe growth retardation

respiratory system

dilated pulmonary alveolar duct ( J:102932 )

• exhibit dilated alveolar ducts

overexpanded pulmonary alveolus ( J:102932 )

• increase in the diameters of pulmonary alveoli from P7

emphysema ( J:102932 )

• exhibit progressive emphysema-like changes, including impaired respiration and enhanced expression of matrix metalloproteases

abnormal pulmonary elastic fiber morphology ( J:102932 )

• exhibit fragmentation and reduction in the number of elastic fibers in the lungs

dilated respiratory conducting tube ( J:102932 )

• exhibit generalized air-space enlargement in the lungs

abnormal respiration ( J:102932 )

increased total lung capacity ( J:102932 )

• lungs have larger total lung capacities

increased lung compliance ( J:102932 )

• display an increase in lung compliance

abnormal pulmonary ventilation ( J:102932 )

• under resting conditions, respiratory minute volume and rate are higher than in wild-type

• ventilatory responses to systemic hypoxia or hypercapnia, or increases in the respiratory minute volume, are significantly attenuated

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
pulmonary emphysema		DOID:9675	OMIM:130700	J:102932