Phenotypes associated with this allele

• Allele Symbol: Hells^tm1Kmu
• Allele Name: targeted mutation 1, Kathrin Muegge
• Allele ID: MGI:2178586
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hells^tm1Kmu/Hells^tm1Kmu	involves: 129S/SvEv * CZECHII/EiJ	MGI:3578119
hm2	Hells^tm1Kmu/Hells^tm1Kmu	involves: 129S1/Sv	MGI:3617972

Genotype
MGI:3578119

hm1

• Allelic Composition: Hells^tm1Kmu/Hells^tm1Kmu
• Genetic Background: involves: 129S/SvEv * CZECHII/EiJ

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

cellular

paternal imprinting ( J:96925 )

• although there was no effect on imprinting at most loci examined, the silenced paternal Cdkn1c allele was derepressed

Genotype
MGI:3617972

hm2

• Allelic Composition: Hells^tm1Kmu/Hells^tm1Kmu
• Genetic Background: involves: 129S1/Sv

mortality/aging

neonatal lethality, complete penetrance ( J:76112 )

• normal proportion of homozygotes are present just before birth and they appear to be grossly normal and breathing at birth

• death occurs within the first few hours or minutes after birth

growth/size/body

decreased body weight ( J:76112 )

• weight is about 22% lower than controls

renal/urinary system

increased renal tubule apoptosis ( J:76112 )

• proximal tubules display signs of increased apoptosis

abnormal kidney morphology ( J:76112 )

• kidneys are normal at E13 and E14

• newborns have severe kidney lesions

abnormal proximal convoluted tubule morphology ( J:76112 )

• multifocal eosinophilic globules and degenerative lesions in proximal tubules with signs of necrosis and increased apoptosis

dilated renal tubule ( J:76112 )

• dilated tubules with vacuolations

renal tubular necrosis ( J:76112 )

• proximal tubules display signs of necrosis

immune system

small thymus ( J:61948 )

• slightly reduced in size

increased double-negative T cell number ( J:61948 )

• enriched to about 24% of thymocytes

decreased B cell number ( J:61948 )

• numbers of B220+ IgM+ cells reduced to about 40% of control numbers

increased CD8-positive, alpha-beta T cell number ( J:61948 )

• moderately increased numbers of single positive CD8 cells

small spleen ( J:61948 )

• barely detectable

cellular

abnormal chromosome morphology ( J:72618 )

• DNA is severely hypomethylated but imprinting is not affected

increased renal tubule apoptosis ( J:76112 )

• proximal tubules display signs of increased apoptosis

hematopoietic system

small thymus ( J:61948 )

• slightly reduced in size

increased double-negative T cell number ( J:61948 )

• enriched to about 24% of thymocytes

decreased B cell number ( J:61948 )

• numbers of B220+ IgM+ cells reduced to about 40% of control numbers

increased CD8-positive, alpha-beta T cell number ( J:61948 )

• moderately increased numbers of single positive CD8 cells

small spleen ( J:61948 )

• barely detectable

endocrine/exocrine glands

small thymus ( J:61948 )

• slightly reduced in size