Phenotypes associated with this allele

• Allele Symbol: Myo9a^em1Atuf
• Allele Name: endonuclease-mediated mutation 1, Alda Tufro
• Allele ID: MGI:6681833
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Myo9a^em1Atuf/Myo9a^em1Atuf	C57BL/6J-Myo9a^em1Atuf	MGI:6681839
ht2	Myo9a^em1Atuf/Myo9a^+	C57BL/6J-Myo9a^em1Atuf	MGI:6681843

Genotype
MGI:6681839

hm1

• Allelic Composition: Myo9a^em1Atuf/Myo9a^em1Atuf
• Genetic Background: C57BL/6J-Myo9a^em1Atuf

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

mortality/aging

postnatal lethality ( J:302901 )

• almost all mice die before 3 weeks of age

behavior/neurological

ataxia ( J:302901 )

• mice develop ataxia

seizures ( J:302901 )

• mice develop seizures

homeostasis/metabolism

increased urine protein level ( J:302901 )

• all mice develop proteinuria

albuminuria ( J:302901 )

• albuminuria is seen at 2 weeks of age

nervous system

seizures ( J:302901 )

• mice develop seizures

hydrocephaly ( J:302901 )

• mice develop progressive hydrocephalus

renal/urinary system

increased urine protein level ( J:302901 )

• all mice develop proteinuria

albuminuria ( J:302901 )

• albuminuria is seen at 2 weeks of age

podocyte foot process effacement ( J:302901 )

• all mice develop foot process effacement

absent podocyte slit diaphragm ( J:302901 )

• kidneys of 2-week-oold mice lack slit diaphragms replaced by adherens junctions

abnormal renal glomerulus basement membrane morphology ( J:302901 )

• kidneys show irregular glomerular basement membrane at 2 weeks of age

increased renal glomerulus basement membrane thickness ( J:302901 )

• kidneys show thick glomerular basement membrane at 2 weeks of age

abnormal renal glomerulus morphology ( J:302901 )

• mice show dysmorphic glomeruli at 2 weeks of age

dilated renal tubule ( J:302901 )

• mice show tubular dilatation at 2 weeks of age

dilated nephron ( J:302901 )

• distal nephron dilatation is seen at 2 weeks of age

Genotype
MGI:6681843

ht2

• Allelic Composition: Myo9a^em1Atuf/Myo9a⁺
• Genetic Background: C57BL/6J-Myo9a^em1Atuf

homeostasis/metabolism

albuminuria ( J:302901 )

• albuminuria is seen at 2 weeks of age

• adults exhibit higher urine albumin-creatinine ratios

• however, adults show no evidence of proteinuria or weight loss

renal/urinary system

abnormal podocyte adhesion ( J:302901 )

• isolated podocytes exhibit decreased attachment in an attachment assay

• preincubation of podocytes with Y26732 corrects the attachment defect

decreased podocyte motility ( J:302901 )

• isolated podocytes exhibit impaired migration in a wound assay

• preincubation of podocytes with Y26732, a ROCK inhibitor that inhibits RhoA signaling, partially abrogates the migration defect

albuminuria ( J:302901 )

• albuminuria is seen at 2 weeks of age

• adults exhibit higher urine albumin-creatinine ratios

• however, adults show no evidence of proteinuria or weight loss

podocyte foot process effacement ( J:302901 )

• mice show foot process effacement at 4 months of age

abnormal podocyte slit diaphragm morphology ( J:302901 )

• mice exhibit abnormal slit diaphragms at 4 months of age

abnormal renal glomerulus basement membrane morphology ( J:302901 )

• mice exhibit irregular glomerular basement membrane at 4 months of age

abnormal glomerular mesangium morphology ( J:302901 )

• mice exhibit mesangial expansion at 4 months of age

glomerulosclerosis ( J:302901 )

• mice show focal segmental glomerulosclerosis of various severity at 4 months of age

• however, tubular atrophy and dilatation or interstitial infiltrates are not seen

cellular

abnormal podocyte adhesion ( J:302901 )

• isolated podocytes exhibit decreased attachment in an attachment assay

• preincubation of podocytes with Y26732 corrects the attachment defect

decreased podocyte motility ( J:302901 )

• isolated podocytes exhibit impaired migration in a wound assay

• preincubation of podocytes with Y26732, a ROCK inhibitor that inhibits RhoA signaling, partially abrogates the migration defect

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
focal segmental glomerulosclerosis		DOID:1312	OMIM:PS603278	J:302901