Phenotypes associated with this allele

• Allele Symbol: Rab8a^tm1.2Aha
• Allele Name: targeted mutation 1.2, Akihiro Harada
• Allele ID: MGI:3719354
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Rab8a^tm1.2Aha/Rab8a^tm1.2Aha	involves: C57BL/6 * SJL	MGI:3720323
hm2	Rab8a^tm1.2Aha/Rab8a^tm1.2Aha	Not Specified	MGI:5578145
cn3	Rab8a^tm1.1Aha/Rab8a^tm1.2Aha Tg(Vil1-cre)997Gum/?	involves: C57BL/6 * SJL	MGI:3720322
cx4	Rab8a^tm1.2Aha/Rab8a^tm1.2Aha Rab8b^tm1.2Aha/Rab8b^tm1.2Aha	involves: BALB/cJ * C57BL/6 * SJL	MGI:5578146

Genotype
MGI:3720323

hm1

• Allelic Composition: Rab8a^tm1.2Aha/Rab8a^tm1.2Aha
• Genetic Background: involves: C57BL/6 * SJL

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

mortality/aging

premature death ( J:123415 )

• mice die 3 to 4 weeks after birth

digestive/alimentary system

abnormal small intestine morphology ( J:123415 )

• small intestines are swollen and contain undigested milk

decreased small intestinal microvillus size ( J:123415 )

• microvilli are shortened and contain inclusion bodies

diarrhea ( J:123415 )

• at 2.5 to 3 weeks

abnormal intestinal absorption ( J:123415 )

• nutrient uptake is abolished in the small intestine

cellular

accumulation of giant lysosomes in kidney/renal tubule cells ( J:123415 )

• 2 to 2.5 weeks, lysosomes accumulate beneath the apical plasma membrane of the tubules

growth/size/body

cachexia ( J:123415 )

• at 2.5 to 3 weeks

renal/urinary system

accumulation of giant lysosomes in kidney/renal tubule cells ( J:123415 )

• 2 to 2.5 weeks, lysosomes accumulate beneath the apical plasma membrane of the tubules

Genotype
MGI:5578145

hm2

• Allelic Composition: Rab8a^tm1.2Aha/Rab8a^tm1.2Aha
• Genetic Background: Not Specified

mortality/aging

premature death ( J:211898 )

• all mice die by 4 weeks after birth

Genotype
MGI:3720322

cn3

• Allelic Composition: Rab8a^tm1.1Aha/Rab8a^tm1.2Aha; Tg(Vil1-cre)997Gum/?
• Genetic Background: involves: C57BL/6 * SJL

mortality/aging

premature death ( J:123415 )

• mice die along a similar time course (3 to 4 weeks) as Rab8a^tm1.2Aha homozygotes

Genotype
MGI:5578146

cx4

• Allelic Composition: Rab8a^tm1.2Aha/Rab8a^tm1.2Aha; Rab8b^tm1.2Aha/Rab8b^tm1.2Aha
• Genetic Background: involves: BALB/cJ * C57BL/6 * SJL

mortality/aging

postnatal lethality, complete penetrance ( J:211898 )

• mice gradually die 2 weeks after birth

digestive/alimentary system

abnormal small intestinal microvillus morphology ( J:211898 )

• atrophic with inclusions at P14

cellular

cellular phenotype ( J:211898 )

N • mice exhibit normal length and morphology of cilia on mouse embryonic fibroblasts

respiratory system

respiratory system phenotype ( J:211898 )

N • mice exhibit normal motile cilia in the trachea

vision/eye

vision/eye phenotype ( J:211898 )

N • mice exhibit normal motile cilia in the retina