Phenotypes associated with this allele

• Allele Symbol: Hspa5^tm1Aoe
• Allele Name: targeted mutation 1, Tomohiko Aoe
• Allele ID: MGI:3773635
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hspa5^tm1Aoe/Hspa5^tm1Aoe	involves: 129S1/Sv * 129X1/SvJ * C57BL/6	MGI:3773636
ht2	Hspa5^tm1Aoe/Hspa5^+	B6.129-Hspa5^tm1Aoe	MGI:3773639

Genotype
MGI:3773636

hm1

• Allelic Composition: Hspa5^tm1Aoe/Hspa5^tm1Aoe
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ * C57BL/6

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

mortality/aging

neonatal lethality, complete penetrance ( J:131209 )

• mice are pale and cyanotic at birth and die within a few hours likely as a consequence of respiratory distress

respiratory system

pulmonary alveolar hemorrhage ( J:131209 )

• hemorrhage is observed in the alveolar space within hours of birth

abnormal pulmonary alveolus epithelial cell morphology ( J:131209 )

• within hours of birth, alveolar epithelia are enlarged compared to in wild-type mice

abnormal type II pneumocyte morphology ( J:131209 )

• lamellar body formation is defective and cells exhibit impaired surfactant secretion

abnormal alveolar lamellar body morphology ( J:131209 )

• lamellar body formation is defective

atelectasis ( J:131209 )

• while lungs are grossly normal at birth, within a few hours mice exhibit atelectasis with poor inflation of peripheral airways

• hemorrhage and cell debris are observed in the alveolar space

respiratory distress ( J:131209 )

abnormal surfactant secretion ( J:131209 )

• surfactant C secretion is impaired

homeostasis/metabolism

cyanosis ( J:131209 )

growth/size/body

decreased fetal size ( J:131209 )

• at E18.5

cardiovascular system

pulmonary alveolar hemorrhage ( J:131209 )

• hemorrhage is observed in the alveolar space within hours of birth

integument

pallor ( J:131209 )

Genotype
MGI:3773639

ht2

• Allelic Composition: Hspa5^tm1Aoe/Hspa5⁺
• Genetic Background: B6.129-Hspa5^tm1Aoe

renal/urinary system

renal interstitial fibrosis ( J:130961 )

• in aged mice

abnormal renal tubule morphology ( J:130961 )

• while young mice exhibit normal kidney morphology, aged mice exhibit tubular-interstitial lesions including tubular atrophy, tubular luminal dilation and interstitial fibrosis

renal tubule atrophy ( J:130961 )

• in aged mice

dilated renal tubule ( J:130961 )

• in aged mice

homeostasis/metabolism

increased susceptibility to injury ( J:130961 )

• despite normal appearance, induction of proteinuria by BSA-overload in young mice results in increased tubular damage, serum creatinine level and tubular cell apoptosis compared to in wild-type mice