Phenotypes associated with this allele

• Allele Symbol: Del(8Defb1-Defb13)1Jrdo
• Allele Name: deletion, Chr 8, Julia R Dorin 1
• Allele ID: MGI:5562924
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Del(8Defb1-Defb13)1Jrdo/Del(8Defb1-Defb13)1Jrdo	involves: 129P2/OlaHsd * C57BL/6N	MGI:5562929
ht2	Del(8Defb1-Defb13)1Jrdo/+	involves: 129P2/OlaHsd * C57BL/6N	MGI:5562931

Genotype
MGI:5562929

hm1

• Allelic Composition: Del(8Defb1-Defb13)1Jrdo/Del(8Defb1-Defb13)1Jrdo
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

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

Increased number of detached heads in the cauda epididymal sperm from Del(8Defb1-Defb13)1Jrdo/Del(8Defb1-Defb13)1Jrdo mice

reproductive system

reproductive system phenotype ( J:204187 )

♂N • no gross abnormalities in testis and epididymis histology or weight

♂N • spermatogenesis appears normal

abnormal sperm axoneme morphology ( J:204187 )

♂ • disruption of the microtubule structure with disintegration of the 9+2 arrangement in sperm present in the cauda

detached sperm flagellum ( J:204187 )

♂ • sperm appear more fragile with significantly higher numbers of headless tails detected when sperm suspension is dropped onto a glass slide

abnormal sperm capacitation ( J:204187 )

♂ • precocious sperm capacitation

male infertility ( J:204187 )

♂

impaired binding of sperm to zona pellucida ( J:204187 )

♂ • binding of sperm to zona pellucida of oocytes is impaired

abnormal sperm physiology ( J:204187 )

♂ • significant increase in intracellular calcium concentration

decreased sperm progressive motility ( J:204187 )

♂ • obvious and significantly lower percentage of progressive sperm motility both before and after capacitation induction

asthenozoospermia ( J:204187 )

♂ • significantly lower percentage of total sperm motility both before and after capacitation induction

abnormal acrosome reaction ( J:204187 )

♂ • at 90 minutes after capacitation twice as many acrosome reacted sperm are present compared to wild-type controls

premature acrosome reaction ( J:204187 )

♂ • significant increase in the percent of sperm undergoing spontaneous, premature acrosome reaction

integument

decreased tail pigmentation ( J:204187 )

• pale tail as a result of the presence of the Agouti transgene

immune system

immune system phenotype ( J:204187 )

N • despite the antimicrobial function of defensins, mice do not display an increase in their inflammatory profiles under normal housing conditions

pigmentation

decreased tail pigmentation ( J:204187 )

• pale tail as a result of the presence of the Agouti transgene

limbs/digits/tail

decreased tail pigmentation ( J:204187 )

• pale tail as a result of the presence of the Agouti transgene

homeostasis/metabolism

abnormal calcium ion homeostasis ( J:204187 )

♂ • significant increase in intracellular calcium concentration in sperm

cellular

abnormal sperm axoneme morphology ( J:204187 )

♂ • disruption of the microtubule structure with disintegration of the 9+2 arrangement in sperm present in the cauda

detached sperm flagellum ( J:204187 )

♂ • sperm appear more fragile with significantly higher numbers of headless tails detected when sperm suspension is dropped onto a glass slide

decreased sperm progressive motility ( J:204187 )

♂ • obvious and significantly lower percentage of progressive sperm motility both before and after capacitation induction

asthenozoospermia ( J:204187 )

♂ • significantly lower percentage of total sperm motility both before and after capacitation induction

Genotype
MGI:5562931

ht2

• Allelic Composition: Del(8Defb1-Defb13)1Jrdo/+
• Genetic Background: involves: 129P2/OlaHsd * C57BL/6N

reproductive system

reproductive system phenotype ( J:204187 )

♂N • males crossed to wild-type females produce the expected number of heterozygous and wild-type offspring indicating haploid sperm cells carrying the mutant allele are not disadvantaged