Phenotypes associated with this allele

• Allele Symbol: Fut8^tm1Nta
• Allele Name: targeted mutation 1, Naoyuki Taniguchi
• Allele ID: MGI:3608699
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Fut8^tm1Nta/Fut8^tm1Nta	involves: 129S2/SvPas	MGI:3608986
hm2	Fut8^tm1Nta/Fut8^tm1Nta	involves: 129S2/SvPas * C57BL/6	MGI:4944071

Genotype
MGI:3608986

hm1

• 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

Genotype
MGI:4944071

hm2

• Allelic Composition: Fut8^tm1Nta/Fut8^tm1Nta
• Genetic Background: involves: 129S2/SvPas * C57BL/6

mortality/aging

decreased survivor rate ( J:150157 )

• Background Sensitivity: survival rates are dramatically reduced after backcrossing onto a C57BL/6 background: after 3 backcrosses (N3) less than 10% of homozygotes (~87% C57BL/6) survive at P3; after N4, homozygotes (~93% C57BL/6) rarely survive past 1 month age

respiratory system

abnormal pulmonary alveolus wall morphology ( J:150157 )

• after 3 backcrosses onto a C57BL/6 background, the number of TUNEL+ cells localized in the alveolar wall is significantly increased both at E12.5 and E18.5, and at different postnatal ages (P10 to 4 months) indicating alveolar cell wall apoptosis, unlike in wild-type lungs

• in contrast, no significant differences in apoptosis are observed in liver, spleen or kidney