Phenotypes associated with this allele

• Allele Symbol: Lmna^tm1Rben
• Allele Name: targeted mutation 1, Ricardo Benavente
• Allele ID: MGI:5695312
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Lmna^tm1Rben/Lmna^tm1Rben	involves: 129S1/Sv * 129X1/SvJ	MGI:5695532

Genotype
MGI:5695532

hm1

• Allelic Composition: Lmna^tm1Rben/Lmna^tm1Rben
• Genetic Background: involves: 129S1/Sv * 129X1/SvJ

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

Small testes and absence of post-meiotic cells in the Lmna^tm1Rben/Lmna^tm1Rben testes

reproductive system

reproductive system phenotype ( J:223056 )

♀N • females produce offspring when mated to wild-type males

♀N • ovaries are appear normal

abnormal reproductive system morphology ( J:223056 )

azoospermia ( J:223056 )

♂ • no sperm in epididymis

abnormal meiosis ( J:223056 )

abnormal chromosomal synapsis ( J:223056 )

• frequent defects in chromosome pairing at pachytene stage

• univalent chromosomes are common, particularly sex chromosomes

• heterologous associations between non-homologous chromosomes

• associations between telomeres

abnormal female meiosis ( J:223056 )

♀ • 32% of oocytes show defective synapsis

♀ • ovaries contain diplotene oocytes by 11 days of age

arrest of male meiosis ( J:223056 )

♂ • post meiotic stages completely absent from seminiferous tubules

♂ • high levels of apoptosis in regions of seminiferous tubules where prophase I gametes are expected

♂ • chromosome bouquet resolution is delayed

♂ • male meiosis arrests in a pachytene-like stage

small testis ( J:223056 )

♂ • significantly smaller than controls

male infertility ( J:223056 )

♂

homeostasis/metabolism

abnormal double-strand DNA break repair ( J:223056 )

• inefficient or unsuccessful double strand break repair

• particularly disruptive to male meiosis

cellular

azoospermia ( J:223056 )

♂ • no sperm in epididymis

abnormal meiosis ( J:223056 )

abnormal chromosomal synapsis ( J:223056 )

• frequent defects in chromosome pairing at pachytene stage

• univalent chromosomes are common, particularly sex chromosomes

• heterologous associations between non-homologous chromosomes

• associations between telomeres

abnormal female meiosis ( J:223056 )

♀ • 32% of oocytes show defective synapsis

♀ • ovaries contain diplotene oocytes by 11 days of age

arrest of male meiosis ( J:223056 )

♂ • post meiotic stages completely absent from seminiferous tubules

♂ • high levels of apoptosis in regions of seminiferous tubules where prophase I gametes are expected

♂ • chromosome bouquet resolution is delayed

♂ • male meiosis arrests in a pachytene-like stage

abnormal double-strand DNA break repair ( J:223056 )

• inefficient or unsuccessful double strand break repair

• particularly disruptive to male meiosis

endocrine/exocrine glands

small testis ( J:223056 )

♂ • significantly smaller than controls