Phenotypes associated with this allele

• Allele Symbol: Thumpd1^em1Meij
• Allele Name: endonuclease-mediated mutation 1, Jordan L Meier
• Allele ID: MGI:8209553
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Thumpd1^em1Meij/Thumpd1^em1Meij	involves: C57BL/6N	MGI:8209554
cx2	Eif2ak4^tm1.2Dron/Eif2ak4^tm1.2Dron Thumpd1^em1Meij/Thumpd1^em1Meij	involves: 129S6/SvEvTac * C57BL/6N	MGI:8209570
cx3	Tg(MMTV-PyVT)634Mul/0 Thumpd1^em1Meij/Thumpd1^+	involves: C57BL/6N * FVB/N	MGI:8209575

Genotype
MGI:8209554

hm1

• Allelic Composition: Thumpd1^em1Meij/Thumpd1^em1Meij
• Genetic Background: involves: C57BL/6N

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:363949 )

• born at sub-Mendelian ratios

reproductive system

abnormal oocyte morphology ( J:363949 )

♀ • ovarian atrophy

♀ • replacement of oocytes, developing follicles, and corpora lutea with interstitial cell hyperplasia

decreased oocyte number ( J:363949 )

♀

abnormal male germ cell morphology ( J:363949 )

♂ • loss or vacuolation of germ cells and multinucleated germ cells

♂ • exfoliated germs cells in the epididymis

increased male germ cell apoptosis ( J:363949 )

♂ • increased apoptosis in the testes

abnormal ovary morphology ( J:363949 )

♀

decreased corpora lutea number ( J:363949 )

♀

abnormal ovarian follicle number ( J:363949 )

♀ • decrease in the number of developing follicles

ovary atrophy ( J:363949 )

♀

abnormal testis morphology ( J:363949 )

♂

abnormal seminiferous tubule morphology ( J:363949 )

♂ • disorganized with loss or vacuolation of germ cells and multinucleated germ cells

testicular atrophy ( J:363949 )

♂

female infertility ( J:363949 )

♀

male infertility ( J:363949 )

♂

growth/size/body

decreased body size ( J:363949 )

nervous system

nervous system phenotype ( J:363949 )

N • no obvious changes in brain weight or morphology unlike in human patients

cellular

abnormal oocyte morphology ( J:363949 )

♀ • ovarian atrophy

♀ • replacement of oocytes, developing follicles, and corpora lutea with interstitial cell hyperplasia

decreased oocyte number ( J:363949 )

♀

abnormal male germ cell morphology ( J:363949 )

♂ • loss or vacuolation of germ cells and multinucleated germ cells

♂ • exfoliated germs cells in the epididymis

increased male germ cell apoptosis ( J:363949 )

♂ • increased apoptosis in the testes

endocrine/exocrine glands

abnormal ovary morphology ( J:363949 )

♀

decreased corpora lutea number ( J:363949 )

♀

abnormal ovarian follicle number ( J:363949 )

♀ • decrease in the number of developing follicles

ovary atrophy ( J:363949 )

♀

abnormal testis morphology ( J:363949 )

♂

abnormal seminiferous tubule morphology ( J:363949 )

♂ • disorganized with loss or vacuolation of germ cells and multinucleated germ cells

testicular atrophy ( J:363949 )

♂

Genotype
MGI:8209570

cx2

• Allelic Composition: Eif2ak4^tm1.2Dron/Eif2ak4^tm1.2Dron; Thumpd1^em1Meij/Thumpd1^em1Meij
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6N

mortality/aging

mortality/aging ( J:363949 )

N • double homozygous mice are found are near Mendelian ratios, indicating improved survival compared to mice homozygous null for Thumpd1 alone

lethality, complete penetrance ( J:363949 )

• all die before P30 even when weaning is delayed and heat pads are provided

• exacerbated phenotypes across all tissues

growth/size/body

decreased body size ( J:363949 )

• extremely runted, more so than in single homozygous mice

nervous system

hydrocephaly ( J:363949 )

• increased incidence

cellular

abnormal germ cell morphology ( J:363949 )

• increased germ cell degeneration

reproductive system

abnormal germ cell morphology ( J:363949 )

• increased germ cell degeneration

Genotype
MGI:8209575

cx3

• Allelic Composition: Tg(MMTV-PyVT)634Mul/0; Thumpd1^em1Meij/Thumpd1⁺
• Genetic Background: involves: C57BL/6N * FVB/N

neoplasm

decreased metastatic potential ( J:363949 )

• no change in primary tumor burden but repression of metastases