Phenotypes associated with this allele

• Allele Symbol: Ubr2^tm1Ytkw
• Allele Name: targeted mutation 1, Yong Tae Kwon
• Allele ID: MGI:2682037
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ubr2^tm1Ytkw/Ubr2^tm1Ytkw	involves: 129S1/Sv	MGI:2682598
hm2	Ubr2^tm1Ytkw/Ubr2^tm1Ytkw	involves: 129S1/Sv * C57BL/6	MGI:2682595
hm3	Ubr2^tm1Ytkw/Ubr2^tm1Ytkw	involves: 129S1/Sv * CD-1	MGI:2682597
cx4	Ubr1^tm1Avar/Ubr1^tm1Avar Ubr2^tm1Ytkw/Ubr2^tm1Ytkw	involves: 129S1/Sv * C57BL/6	MGI:3663588

Genotype
MGI:2682598

hm1

• Allelic Composition: Ubr2^tm1Ytkw/Ubr2^tm1Ytkw
• Genetic Background: involves: 129S1/Sv

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:86438 )

• very few homozygotes of either sex produced

reproductive system

testis degeneration ( J:86438 )

♂ • testis degeneration not as severe as on the mixed background with C57BL/6

endocrine/exocrine glands

testis degeneration ( J:86438 )

♂ • testis degeneration not as severe as on the mixed background with C57BL/6

Genotype
MGI:2682595

hm2

• Allelic Composition: Ubr2^tm1Ytkw/Ubr2^tm1Ytkw
• Genetic Background: involves: 129S1/Sv * C57BL/6

mortality/aging

prenatal lethality, incomplete penetrance ( J:86438 )

♀ • lower than expected numbers of homozygous females born

growth/size/body

postnatal growth retardation ( J:86438 )

♀ • rare surviving females were growth retarded by 2 months of age

reproductive system

testis degeneration ( J:86438 )

♂ • testes degeneration starts around 3 weeks and continues past 8 weeks

♂ • at 8 weeks, testes are about 1/4 normal weight

abnormal gametogenesis ( J:86438 )

oligozoospermia ( J:86438 )

♂ • epididymal sperm count averaged about 30% lower

♂ • low levels of sperm in the epididymis at 8 weeks and that sperm was abnormal

arrest of male meiosis ( J:86438 )

♂ • spermatogenesis stops at or before the pachytene stage of prophase I

abnormal fertility/fecundity ( J:86438 )

reduced female fertility ( J:86438 )

♀ • rare surviving females showed reduced fertility

male infertility ( J:86438 )

♂ • males were infertile but in early generations and later phenotype ameliorated somewhat

embryo

abnormal embryonic tissue morphology ( J:86438 )

♀ • 6 out of 13 E7.5 female embryos were growth arrested or deformed

abnormal embryonic tissue physiology ( J:86438 )

♀ • increased apoptosis in E9.5 and E11.5 growth arrested female embryos

♀ • no abnormality in apoptosis if growth was normal

increased embryonic tissue cell apoptosis ( J:86438 )

♀ • increased apoptosis in E9.5 and E11.5 growth arrested female embryos

♀ • no abnormality in apoptosis if growth was normal

endocrine/exocrine glands

testis degeneration ( J:86438 )

♂ • testes degeneration starts around 3 weeks and continues past 8 weeks

♂ • at 8 weeks, testes are about 1/4 normal weight

cellular

oligozoospermia ( J:86438 )

♂ • epididymal sperm count averaged about 30% lower

♂ • low levels of sperm in the epididymis at 8 weeks and that sperm was abnormal

arrest of male meiosis ( J:86438 )

♂ • spermatogenesis stops at or before the pachytene stage of prophase I

increased embryonic tissue cell apoptosis ( J:86438 )

♀ • increased apoptosis in E9.5 and E11.5 growth arrested female embryos

♀ • no abnormality in apoptosis if growth was normal

Genotype
MGI:2682597

hm3

• Allelic Composition: Ubr2^tm1Ytkw/Ubr2^tm1Ytkw
• Genetic Background: involves: 129S1/Sv * CD-1

mortality/aging

prenatal lethality, incomplete penetrance ( J:86438 )

• lower than expected numbers (9) of homozygous females born

reproductive system

testis degeneration ( J:86438 )

♂ • testes degeneration not as severe as on a mixed background with C57BL/6

endocrine/exocrine glands

testis degeneration ( J:86438 )

♂ • testes degeneration not as severe as on a mixed background with C57BL/6

Genotype
MGI:3663588

cx4

• Allelic Composition: Ubr1^tm1Avar/Ubr1^tm1Avar; Ubr2^tm1Ytkw/Ubr2^tm1Ytkw
• Genetic Background: involves: 129S1/Sv * C57BL/6

Abnormal development of the central nervous system in Ubr1^tm1Avar/Ubr1^tm1Avar Ubr2^tm1Ytkw/Ubr2^tm1Ytkw embryos

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:109036 )

• die by E12.5

growth/size/body

decreased embryo size ( J:109036 )

• embryos are smaller at E10.5 but not at earlier stages

embryo

abnormal vitelline vasculature morphology ( J:109036 )

• by E10.5, blood vessels in the yolk sac are thinner and less branched

embryonic growth arrest ( J:109036 )

• growth ceases at around E10.5

decreased embryo size ( J:109036 )

• embryos are smaller at E10.5 but not at earlier stages

abnormal embryonic neuroepithelium morphology ( J:109036 )

• neuroepithelium at E10.5 is composed of 3 layers (VZ, SVZ, and mantle) instead of two (VZ and mantle) as in wild-type

decreased embryonic neuroepithelium thickness ( J:109036 )

• neuroepithelium at E10.5 is thin, with greater severity in the forebrain than in the spinal cord

• neuroepithelial structures do not increase in thickness after E10.5, in contrast to control embryos

kinked neural tube ( J:109036 )

• neural tubes are normal at E10.5 but by E11.5 become kinked

pale yolk sac ( J:109036 )

• appears pale by E10.5 but not at earlier stages

abnormal vitelline vascular remodeling ( J:109036 )

• staining for Pecam-1 at E10.5 shows that growth, remodeling, and branching of both small and large vessels is impaired

nervous system

increased neural tube apoptosis ( J:109036 )

• exhibit increased amounts apoptosis throughout the neural tubes at E10.5

abnormal neuron differentiation ( J:109036 )

• reduction in proliferation and precocious migration and differentiation of neural progenitor cells

• decrease in the levels of S-phase neural precursor cells throughout the anteroposterior axis at E10.5, indicating impaired proliferation in the ventricular zone (VZ)

• higher numbers of mitotic neural precursors are present in the VZ of the forebrain at E10.5 and the distribution of mitotic cells is disorganized

• many mitotic cells appear to be between the interphase and prophase (instead of prophase or prometaphase as in wild-type), suggesting an arrest

abnormal embryonic neuroepithelium morphology ( J:109036 )

• neuroepithelium at E10.5 is composed of 3 layers (VZ, SVZ, and mantle) instead of two (VZ and mantle) as in wild-type

decreased embryonic neuroepithelium thickness ( J:109036 )

• neuroepithelium at E10.5 is thin, with greater severity in the forebrain than in the spinal cord

• neuroepithelial structures do not increase in thickness after E10.5, in contrast to control embryos

kinked neural tube ( J:109036 )

• neural tubes are normal at E10.5 but by E11.5 become kinked

abnormal forebrain development ( J:109036 )

• by E11.5, forebrain morphology is distorted, with serpentine, thin, often disjointed neuroepithelial layers of varying thickness

cardiovascular system

abnormal blood vessel morphology ( J:109036 )

• larger vessels such as the intracranial artery are thin an poorly developed at E10.5

abnormal vitelline vasculature morphology ( J:109036 )

• by E10.5, blood vessels in the yolk sac are thinner and less branched

abnormal heart morphology ( J:109036 )

• exhibit a large space between the heart and pericardium at E10.5, consistent with the accumulation of pericardial fluid

abnormal myocardial trabeculae morphology ( J:109036 )

• trabeculations are thinner and less abundant

disorganized myocardium ( J:109036 )

• disorganization of the myocardial wall at E10.5

abnormal heart development ( J:109036 )

• development of the atria and ventricles is arrested by E10.5

abnormal heart atrium morphology ( J:109036 )

• development of the atria is arrested by E10.5

abnormal interatrial septum morphology ( J:109036 )

• interatrial septa formation is not observed by E10.5

abnormal heart ventricle morphology ( J:109036 )

• development of the ventricles is arrested by E10.5

• variable levels of ventricular atrophy

abnormal interventricular septum morphology ( J:109036 )

• interventricular septa formation is not observed by E10.5

distended pericardium ( J:109036 )

• seen by E10.5

pericardial effusion ( J:109036 )

• seen by E10.5

hemorrhage ( J:109036 )

• develop local hemorrhages by E10.5 (but not at E9.5)

muscle

abnormal myocardial trabeculae morphology ( J:109036 )

• trabeculations are thinner and less abundant

disorganized myocardium ( J:109036 )

• disorganization of the myocardial wall at E10.5

homeostasis/metabolism

pericardial effusion ( J:109036 )

• seen by E10.5

cellular

increased neural tube apoptosis ( J:109036 )

• exhibit increased amounts apoptosis throughout the neural tubes at E10.5

abnormal neuron differentiation ( J:109036 )

• reduction in proliferation and precocious migration and differentiation of neural progenitor cells

• decrease in the levels of S-phase neural precursor cells throughout the anteroposterior axis at E10.5, indicating impaired proliferation in the ventricular zone (VZ)

• higher numbers of mitotic neural precursors are present in the VZ of the forebrain at E10.5 and the distribution of mitotic cells is disorganized

• many mitotic cells appear to be between the interphase and prophase (instead of prophase or prometaphase as in wild-type), suggesting an arrest