Phenotypes Associated with This Genotype

Genotype
MGI:3715729

• Allelic Composition: Sun1^tm1Mhan/Sun1^tm1Mhan
• Genetic Background: involves: 129S6/SvEvTac

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

reproductive system

absent oocytes ( J:122602 )

♀ • no oocytes are detected at day 5

abnormal spermatocyte morphology ( J:122602 )

♂ • only abnormal spermatocyte-like cells are present

decreased male germ cell number ( J:122602 )

♂ • spermatids and spermatozoa are completely absent

♂ • germ cells are largely depleted in seminiferous tubules

abnormal chromosomal synapsis ( J:122602 )

♂ • no spermatocytes show normal homologous pairing and synapsis

abnormal female meiosis ( J:122602 )

♀ • oocytes fail to form normal nuclear attachment and clustering of telomeres

♀ • very rarely are pachytene-like structures observed

arrest of male meiosis ( J:122602 )

♂ • spermatogenesis is arrested in meiotic prophase

♂ • spermatocytes fail to form normal nuclear attachment and clustering of telomeres

♂ • no spermatocytes show normal homologous pairing and synapsis

increased ovary apoptosis ( J:122602 )

♀ • at E17.5, ovaries have increased apoptotic signal

increased testis apoptosis ( J:122602 )

♂ • apoptotic signal in the seminiferous tubules is increased

absent ovarian follicles ( J:122602 )

♀

small ovary ( J:122602 )

♀

small testis ( J:122602 )

♂

female infertility ( J:122602 )

♀

male infertility ( J:122602 )

♂

cellular

absent oocytes ( J:122602 )

♀ • no oocytes are detected at day 5

abnormal spermatocyte morphology ( J:122602 )

♂ • only abnormal spermatocyte-like cells are present

decreased male germ cell number ( J:122602 )

♂ • germ cells are largely depleted in seminiferous tubules

♂ • spermatids and spermatozoa are completely absent

abnormal chromosomal synapsis ( J:122602 )

♂ • no spermatocytes show normal homologous pairing and synapsis

abnormal female meiosis ( J:122602 )

♀ • oocytes fail to form normal nuclear attachment and clustering of telomeres

♀ • very rarely are pachytene-like structures observed

arrest of male meiosis ( J:122602 )

♂ • spermatogenesis is arrested in meiotic prophase

♂ • spermatocytes fail to form normal nuclear attachment and clustering of telomeres

♂ • no spermatocytes show normal homologous pairing and synapsis

increased ovary apoptosis ( J:122602 )

♀ • at E17.5, ovaries have increased apoptotic signal

increased testis apoptosis ( J:122602 )

♂ • apoptotic signal in the seminiferous tubules is increased

hearing/vestibular/ear

abnormal cochlear outer hair cell morphology ( J:194486 )

• outer hair cells exhibit abnormal positioning of the nucleus compared with wild-type mice

cochlear outer hair cell degeneration ( J:194486 )

increased or absent threshold for auditory brainstem response ( J:194486 )

• at P30

behavior/neurological

absent pinna reflex ( J:194486 )

muscle

abnormal muscle morphology ( J:150047 )

• mice exhibit a modest decrease in the average number of synaptic nuclei beneath the neuromuscular junctions compared with wild-type mice

nervous system

abnormal cochlear outer hair cell morphology ( J:194486 )

• outer hair cells exhibit abnormal positioning of the nucleus compared with wild-type mice

cochlear outer hair cell degeneration ( J:194486 )

endocrine/exocrine glands

increased ovary apoptosis ( J:122602 )

♀ • at E17.5, ovaries have increased apoptotic signal

increased testis apoptosis ( J:122602 )

♂ • apoptotic signal in the seminiferous tubules is increased

absent ovarian follicles ( J:122602 )

♀

small ovary ( J:122602 )

♀

small testis ( J:122602 )

♂