Phenotypes associated with this allele

• Allele Symbol: Hsd17b2^tm1Mpo
• Allele Name: targeted mutation 1, Matti Poutanen
• Allele ID: MGI:3773836
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Hsd17b2^tm1Mpo/Hsd17b2^tm1Mpo	involves: 129S7/SvEvBrd	MGI:3798865

Genotype
MGI:3798865

hm1

• Allelic Composition: Hsd17b2^tm1Mpo/Hsd17b2^tm1Mpo
• Genetic Background: involves: 129S7/SvEvBrd

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

mortality/aging

premature death ( J:131329 )

• all mutants that survive to birth, either die or have to be killed before the age of 4 months, due to severe hydrocephalus

lethality throughout fetal growth and development, incomplete penetrance ( J:131329 )

• 70% lethality beginning at E11.5 and onwards; percentage of live embryos at E15.5 is 6% and 6% at E17.5 instead of the expected 25%

• progesterone or antiestrogen treatment does not rescue the lethality

embryonic lethality during organogenesis, incomplete penetrance ( J:131329 )

• 70% lethality beginning at E11.5 and onwards; percentage of live embryos at E11.5 is 14%, instead of the expected 25%

growth/size/body

embryonic growth retardation ( J:131329 )

• embryos are slightly growth retarded at every stage studied

decreased birth body size ( J:131329 )

• small size at birth

decreased birth weight ( J:131329 )

• body weight of newborns is 23% smaller than in wild-type

megacephaly ( J:131329 )

• surviving mutants have an enlarged head

postnatal growth retardation ( J:131329 )

• 24% survive the fetal period but are growth retarded

fetal growth retardation ( J:131329 )

embryo

embryonic growth retardation ( J:131329 )

• embryos are slightly growth retarded at every stage studied

abnormal placenta morphology ( J:131329 )

• mutants exhibit liquid-filled cysts in the junctional region and basal layer

• the junction between the spongiotrophoblast and labyrinthine layer is disrupted

• the basal layer is increased in size and unorganized in structure

• intraplacental level of progesterone in the placenta at E17.5 is slightly elevated

increased spongiotrophoblast size ( J:131329 )

• increase in volume of the spongiotrophoblast layer

abnormal placenta labyrinth morphology ( J:131329 )

• extensive trophoblast aggregates are present in the labyrinthine layer

disorganized placental labyrinth ( J:131329 )

• labyrinthine layer is disorganized

small placenta ( J:131329 )

• reduced placental size at E17.5

behavior/neurological

impaired balance ( J:131329 )

impaired coordination ( J:131329 )

abnormal sleep pattern ( J:131329 )

• increased sleepiness

nervous system

hydrocephaly ( J:131329 )

• the enlargement of ventricles progressively increases postnatally, resulting in hydrocephalus with enlarged bilateral ventricles covered with only a thin cortical mantel

decreased brain weight ( J:131329 )

• brain weight is reduced in newborns

enlarged lateral ventricles ( J:131329 )

• enlarged lateral ventricle at one side

enlarged thalamus ( J:131329 )

• the thalamus of some mutants appears enlarged

abnormal cerebral cortex morphology ( J:131329 )

• in the developing cerebral cortex, an altered layering of cells is seen together with abnormal laminar organization and increased cellular density

• hyperplasia and disrupted cellular strand are seen in most cases in the occipital and parietal cortical areas

• the number of small cells in all the cortical layers is increased but is most prominent in layers II-IV

exencephaly ( J:131329 )

• some mutants exhibit exencephaly at E15-E17.5

renal/urinary system

abnormal kidney morphology ( J:131329 )

abnormal kidney collecting duct epithelium morphology ( J:131329 )

• disorganization of the developing collecting duct epithelium

abnormal kidney medulla morphology ( J:131329 )

• the stromal cells at the developing medullary region are disorganized

decreased kidney weight ( J:131329 )

• weight of remaining kidney is reduced

renal tubule hypertrophy ( J:131329 )

• enlargement of the tubular segments of the nephrons

• the tubules in the kidney medulla and the renal pelvis are enlarged at P1, however the cortical layer, where tubules form is normal

kidney degeneration ( J:131329 )

• newborns frequently exhibit unilateral renal degeneration, with the affected kidney appearing as a fluid-filled sac

pale kidney ( J:131329 )

• the remaining kidney is pale