Phenotypes associated with this allele

• Allele Symbol: Patl2^{tm1b(EUCOMM)Hmgu}
• Allele Name: targeted mutation 1b, Helmholtz Zentrum Muenchen GmbH
• Allele ID: MGI:6200023
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Patl2^tm1b(EUCOMM)Hmgu/Patl2^tm1b(EUCOMM)Hmgu	involves: C57BL/6N * FVB/N	MGI:6200082

Genotype
MGI:6200082

hm1

• Allelic Composition: Patl2^{tm1b(EUCOMM)Hmgu}/Patl2^{tm1b(EUCOMM)Hmgu}
• Genetic Background: involves: C57BL/6N * FVB/N

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

reproductive system

reproductive system phenotype ( J:264835 )

♂N • male fertility is normal

abnormal meiotic spindle morphology ( J:264835 )

♀ • significant increase in the number of MII oocytes with abnormal spindle morphology, misalignment of chromosomes on the spindle and numerous cytoplasmic asters

abnormal oogenesis ( J:264835 )

♀ • oocyte growth is impaired

♀ • increase in the percentage of oocytes released at stages before MII, 45% compared to 26% in wild-type controls

abnormal oocyte morphology ( J:264835 )

♀ • following pregnant mare serum gonadotropin ovarian stimulation, germinal vesicle oocytes are smaller in diameter compared to similarly treated wild-type controls

♀ • however, the number of oocytes produced by stimulation is similar to controls

♀ • unlike human patients, stimulated mice produce MII stage oocytes but these are also smaller in diameter compared to controls

abnormal female meiosis ( J:264835 )

♀ • oocyte meiotic maturation is impaired

abnormal female meiosis I arrest ( J:264835 )

♀ • oocytes apparently arrested at MI display misaligned chromosomes and abundant cytoplasmic asters

impaired spindle assembly in female meiosis ( J:264835 )

♀ • significant increase in the number of MII oocytes with abnormal spindle morphology, misalignment of chromosomes on the spindle and numerous cytoplasmic asters

increased primordial ovarian follicle number ( J:264835 )

♀ • increase in the number of primordial oocytes at P26 but not at P12 compared to wild-type controls

♀ • numbers of primary and secondary follicles are similar at P12 and P26

reduced female fertility ( J:264835 )

♀ • severe reduction with both total number of pups and litters per month reduced over a 6 month period when crossed to wild-type males

♀ • fertilized zygotes show numerous defects, including delayed pronucleus formation, absence of sperm DNA decondensation, and/or polyspermy

♀ • only 27.2% +/- 5.1 of 2-cell embryos reach the blastocyst stage compared to 87.1% +/- 5.6% for wild-type controls

decreased litter size ( J:264835 )

♀ • average litter size is 2.3 +/- 0.4 compared to 7.3 +/- 0.8 for wild-type controls when both are crossed to wild-type males

polyspermy ( J:264835 )

♀ • fertilized zygotes show numerous defects, including polyspermy

impaired fertilization ( J:264835 )

♀ • decrease in the percentage of eggs reaching the 2-cell stage following IVF to 36.4% +/- 6.4%, estimated to be a 65% success rate for MII stage oocytes compared to 90% for wild-type controls

cellular

abnormal meiotic spindle morphology ( J:264835 )

♀ • significant increase in the number of MII oocytes with abnormal spindle morphology, misalignment of chromosomes on the spindle and numerous cytoplasmic asters

abnormal oogenesis ( J:264835 )

♀ • oocyte growth is impaired

♀ • increase in the percentage of oocytes released at stages before MII, 45% compared to 26% in wild-type controls

abnormal oocyte morphology ( J:264835 )

♀ • following pregnant mare serum gonadotropin ovarian stimulation, germinal vesicle oocytes are smaller in diameter compared to similarly treated wild-type controls

♀ • however, the number of oocytes produced by stimulation is similar to controls

♀ • unlike human patients, stimulated mice produce MII stage oocytes but these are also smaller in diameter compared to controls

abnormal female meiosis ( J:264835 )

♀ • oocyte meiotic maturation is impaired

abnormal female meiosis I arrest ( J:264835 )

♀ • oocytes apparently arrested at MI display misaligned chromosomes and abundant cytoplasmic asters

impaired spindle assembly in female meiosis ( J:264835 )

♀ • significant increase in the number of MII oocytes with abnormal spindle morphology, misalignment of chromosomes on the spindle and numerous cytoplasmic asters

endocrine/exocrine glands

increased primordial ovarian follicle number ( J:264835 )

♀ • increase in the number of primordial oocytes at P26 but not at P12 compared to wild-type controls

♀ • numbers of primary and secondary follicles are similar at P12 and P26

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
ovarian disease		DOID:1100		J:264835