Phenotypes associated with this allele

• Allele Symbol: Spdya^tm1.1Klad
• Allele Name: targeted mutation 1.1, Phillip Kladis
• Allele ID: MGI:5888863
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Spdya^tm1.1Klad/Spdya^tm1.1Klad	involves: 129S1/Sv * C57BL/6J	MGI:5896996

Genotype
MGI:5896996

hm1

• Allelic Composition: Spdya^tm1.1Klad/Spdya^tm1.1Klad
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

Depletion of male and female germ cells in Spdya^tm1.1Klad/Spdya^tm1.1Klad mice

reproductive system

decreased oocyte number ( J:239544 )

♀ • reduction of oocyte number at P1, leading to complete depletion of oocytes by P5

♀ • however, oocyte number is normal at E17.5

abnormal spermatid morphology ( J:239544 )

♂ • lack of round and elongated spermatids at P75

abnormal spermatocyte morphology ( J:239544 )

♂ • loss of differentiated spermatocytes at P18

decreased male germ cell number ( J:239544 )

♂ • males show loss of differentiated spermatocytes at P18 and lack round and elongated spermatids at P75

♂ • however, the number of spermatogonia is normal at P7

abnormal chiasmata formation ( J:239544 )

♂ • in zygotene-like spermatocytes, the chiasmata marker MLH1 is absent from chromosomes, indicating failure of homologous recombination

abnormal chromosomal synapsis ( J:239544 )

♂ • in zygotene-like spermatocytes, SYCP1 (synaptonemal complex protein 1) is partially formed along the synaptonemal axes, indicating impaired homologous synapsis

abnormal female meiosis ( J:239544 )

♀ • female germ cells fail to progress beyond the zygotene stage

abnormal male meiosis ( J:239544 )

♂ • homologous synapsis, double-strand repair, and homologous recombination are largely abolished in spermatocytes

arrest of male meiosis ( J:239544 )

♂ • telomere attachment to the nuclear envelope (NE) is impaired in spermatocytes leading to meiotic prophase I arrest, before telomere cap exchange, homologous synapsis, and recombination; spermatocytes do not progress beyond the pachytene stage

abnormal synaptonemal complex ( J:239544 )

• in zygotene-like spermatocytes, SYCP1 (synaptonemal complex protein 1) is partially formed along the synaptonemal axes, indicating impaired homologous synapsis

ovary atrophy ( J:239544 )

♀ • atrophic ovaries at P35

testicular atrophy ( J:239544 )

♂ • atrophic testes at P35

♂ • however, testes are histologically normal at P7

infertility ( J:239544 )

• both males and females are infertile

female infertility ( J:239544 )

♀

male infertility ( J:239544 )

♂

cellular

decreased oocyte number ( J:239544 )

♀ • reduction of oocyte number at P1, leading to complete depletion of oocytes by P5

♀ • however, oocyte number is normal at E17.5

abnormal spermatid morphology ( J:239544 )

♂ • lack of round and elongated spermatids at P75

abnormal spermatocyte morphology ( J:239544 )

♂ • loss of differentiated spermatocytes at P18

decreased male germ cell number ( J:239544 )

♂ • males show loss of differentiated spermatocytes at P18 and lack round and elongated spermatids at P75

♂ • however, the number of spermatogonia is normal at P7

abnormal telomere morphology ( J:239544 )

• in P18 spermatocytes (leptotene and zygotene-like cells), most telomeres are abnormally observed inside the nucleus, unlike in wild-type spermatocytes where all telomeres are attached to the nuclear envelope (NE)

• in E17.5 zygotene-like oocytes, several telomeres are found inside the nucleus, unlike in wild-type oocytes, indicating that telomere attachment to the NE is impaired

• P18 zygotene-like spermatocytes lack the shelterin ring structure observed in wild-type spermatocytes, indicating failure of the telomere cap-exchange process

• in zygotene-like spermatocytes, TERB1 and MAJIN are localized to telomeres on the NE, but SUN1 is observed along the NE as a polarized cap, indicating that telomere tethering to the LINC complex is impaired during prophase

abnormal chiasmata formation ( J:239544 )

♂ • in zygotene-like spermatocytes, the chiasmata marker MLH1 is absent from chromosomes, indicating failure of homologous recombination

abnormal chromosomal synapsis ( J:239544 )

♂ • in zygotene-like spermatocytes, SYCP1 (synaptonemal complex protein 1) is partially formed along the synaptonemal axes, indicating impaired homologous synapsis

abnormal female meiosis ( J:239544 )

♀ • female germ cells fail to progress beyond the zygotene stage

abnormal male meiosis ( J:239544 )

♂ • homologous synapsis, double-strand repair, and homologous recombination are largely abolished in spermatocytes

arrest of male meiosis ( J:239544 )

♂ • telomere attachment to the nuclear envelope (NE) is impaired in spermatocytes leading to meiotic prophase I arrest, before telomere cap exchange, homologous synapsis, and recombination; spermatocytes do not progress beyond the pachytene stage

abnormal synaptonemal complex ( J:239544 )

• in zygotene-like spermatocytes, SYCP1 (synaptonemal complex protein 1) is partially formed along the synaptonemal axes, indicating impaired homologous synapsis

abnormal double-strand DNA break repair ( J:239544 )

♂ • in zygotene-like spermatocytes, gammaH2AX is observed along all chromosome axes rather than being restricted to the unsynapsed regions of the XY body, indicating that DNA double-strand repair is impaired

endocrine/exocrine glands

ovary atrophy ( J:239544 )

♀ • atrophic ovaries at P35

testicular atrophy ( J:239544 )

♂ • atrophic testes at P35

♂ • however, testes are histologically normal at P7

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:239544 )

♂ • in zygotene-like spermatocytes, gammaH2AX is observed along all chromosome axes rather than being restricted to the unsynapsed regions of the XY body, indicating that DNA double-strand repair is impaired