Phenotypes associated with this allele

• Allele Symbol: Ggnbp2^tm1Bbs
• Allele Name: targeted mutation 2, Beate Brand-Saberi
• Allele ID: MGI:6355945
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ggnbp2^tm1Bbs/Ggnbp2^tm1Bbs	involves: 129S6/SvEvTac * C57BL/6	MGI:6357855

Genotype
MGI:6357855

hm1

• Allelic Composition: Ggnbp2^tm1Bbs/Ggnbp2^tm1Bbs
• Genetic Background: involves: 129S6/SvEvTac * C57BL/6

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

mortality/aging

decreased survivor rate ( J:270533 )

• only a few homozygotes survive to birth and reach adulthood

prenatal lethality, incomplete penetrance ( J:270533 )

• most homozygotes die in utero; following interbreeding of heterozygotes, only 4 homozygotes (3 males and 1 female) are obtained from a total of 179 offspring

reproductive system

increased testis apoptosis ( J:270533 )

♂ • homozygotes show a significant increase in testis apoptosis relative to control mice

♂ • apoptotic cells are more dispersed towards the lumen of the seminiferous tubules, unlike in control mice where apoptotic cells are found near the basement membrane

abnormal seminiferous tubule morphology ( J:270533 )

♂ • proliferating cell nuclear antigen (PCNA)-positive cells are localized in the lumen of the convoluted seminiferous tubules

♂ • no Sox9 staining is present in the contorted seminiferous tubules

abnormal seminiferous tubule epithelium morphology ( J:270533 )

♂ • histological analysis of the epithelium revealed that convoluted seminiferous tubules appear distorted and more loosely structured than in wild-type and heterozygous control mice

decreased Sertoli cell number ( J:270533 )

♂ • SOX9-positive Sertoli cells are absent in the seminiferous tubules

abnormal spermatogenesis ( J:270533 )

♂ • spermatogenesis is severely compromised

azoospermia ( J:270533 )

♂ • seminiferous tubules are almost devoid of sperm cells

male infertility ( J:270533 )

♂ • all (3 of 3) male homozygotes are infertile

endocrine/exocrine glands

increased testis apoptosis ( J:270533 )

♂ • homozygotes show a significant increase in testis apoptosis relative to control mice

♂ • apoptotic cells are more dispersed towards the lumen of the seminiferous tubules, unlike in control mice where apoptotic cells are found near the basement membrane

abnormal seminiferous tubule morphology ( J:270533 )

♂ • proliferating cell nuclear antigen (PCNA)-positive cells are localized in the lumen of the convoluted seminiferous tubules

♂ • no Sox9 staining is present in the contorted seminiferous tubules

abnormal seminiferous tubule epithelium morphology ( J:270533 )

♂ • histological analysis of the epithelium revealed that convoluted seminiferous tubules appear distorted and more loosely structured than in wild-type and heterozygous control mice

decreased Sertoli cell number ( J:270533 )

♂ • SOX9-positive Sertoli cells are absent in the seminiferous tubules

cellular

azoospermia ( J:270533 )

♂ • seminiferous tubules are almost devoid of sperm cells

increased testis apoptosis ( J:270533 )

♂ • homozygotes show a significant increase in testis apoptosis relative to control mice

♂ • apoptotic cells are more dispersed towards the lumen of the seminiferous tubules, unlike in control mice where apoptotic cells are found near the basement membrane