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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID 		Siah1atm1Ddlb
targeted mutation 1, David D L Bowtell
MGI:2183245
Summary 5 genotypes
Jump to Allelic Composition Genetic Background Genotype ID
hm1
 		Siah1atm1Ddlb/Siah1atm1Ddlb involves: 129S1/Sv MGI:3761118
hm2
 		Siah1atm1Ddlb/Siah1atm1Ddlb involves: 129S1/Sv * C57BL/6J MGI:2684062
cx3
 		Siah1atm1Ddlb/Siah1atm1Ddlb
Siah2tm1Ddlb/Siah2tm1Ddlb 		involves: 129S1/Sv * 129S4/SvJae MGI:3761117
cx4
 		Siah1atm1Ddlb/Siah1atm1Ddlb
Siah2tm1Ddlb/Siah2+ 		involves: 129S4/SvJae * C57BL/6J MGI:2684007
cx5
 		Siah1atm1Ddlb/Siah1atm1Ddlb
Siah2tm1Ddlb/Siah2tm1Ddlb 		involves: 129S4/SvJae * C57BL/6J MGI:2684008


Genotype
MGI:3761118
hm1
Allelic
Composition		 Siah1atm1Ddlb/Siah1atm1Ddlb
Genetic
Background		 involves: 129S1/Sv
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Siah1atm1Ddlb mutation (0 available); any Siah1a mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
cellular phenotype ( J:126183 )
N
• mouse embryonic fibroblasts display normal proliferation, contact inhibition, senescence, p53-mediated apoptosis and response to radiation




Genotype
MGI:2684062
hm2
Allelic
Composition		 Siah1atm1Ddlb/Siah1atm1Ddlb
Genetic
Background		 involves: 129S1/Sv * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Siah1atm1Ddlb mutation (0 available); any Siah1a mutation (15 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
premature death ( J:75489 )
• homozygotes born in normal proportions
• only about 30% survive to weaning
• continued mortality as adults sometimes associated with wasting

endocrine/exocrine glands
abnormal seminiferous tubule morphology ( J:75489 )
• seminiferous epithelium vacuolated with immature germ cells in lumen
• post meiotic round and elongating spermatids absent about 50% of time
• apoptotic spermatocytes abundant in some seminiferous tubules
small testis ( J:75489 )
• testes were very small
• normal levels of testosterone, FSH, and LH

growth/size/body
decreased body weight ( J:75489 )
• normal weight at E18.5
• weight significantly reduced by 1 day after birth
• adults about 60% normal weight
• proportions normal with exceptions
• brain and lung weights low but proportionately higher

liver/biliary system

reproductive system
abnormal seminiferous tubule morphology ( J:75489 )
• seminiferous epithelium vacuolated with immature germ cells in lumen
• post meiotic round and elongating spermatids absent about 50% of time
• apoptotic spermatocytes abundant in some seminiferous tubules
small testis ( J:75489 )
• testes were very small
• normal levels of testosterone, FSH, and LH
azoospermia ( J:75489 )
• absence of mature sperm
arrest of male meiosis ( J:75489 )
• prophase I normal
• progression past metaphase I rare
• microtubule attachments to kinetochore apparently normal
• all anaphase I cells unusual in appearance
reduced female fertility ( J:75489 )
• reduced fertility when mated to wild-type males
• only certain females produced litters and litters died within 1 day
• ovarian follicles appeared normal
male infertility ( J:75489 )
• males infertile when mated to wild-type females

cellular
azoospermia ( J:75489 )
• absence of mature sperm




Genotype
MGI:3761117
cx3
Allelic
Composition		 Siah1atm1Ddlb/Siah1atm1Ddlb
Siah2tm1Ddlb/Siah2tm1Ddlb
Genetic
Background		 involves: 129S1/Sv * 129S4/SvJae
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Siah1atm1Ddlb mutation (0 available); any Siah1a mutation (15 available)
Siah2tm1Ddlb mutation (0 available); any Siah2 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
cellular
cellular phenotype ( J:126183 )
N
• mouse embryonic fibroblasts display normal proliferation, contact inhibition, senescence, p53-mediated apoptosis and response to radiation




Genotype
MGI:2684007
cx4
Allelic
Composition		 Siah1atm1Ddlb/Siah1atm1Ddlb
Siah2tm1Ddlb/Siah2+
Genetic
Background		 involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Siah1atm1Ddlb mutation (0 available); any Siah1a mutation (15 available)
Siah2tm1Ddlb mutation (0 available); any Siah2 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, incomplete penetrance ( J:86820 )
• most pups die within the first day; all are dead by day 5
postnatal lethality, complete penetrance ( J:86820 )
• all are dead by day 5




Genotype
MGI:2684008
cx5
Allelic
Composition		 Siah1atm1Ddlb/Siah1atm1Ddlb
Siah2tm1Ddlb/Siah2tm1Ddlb
Genetic
Background		 involves: 129S4/SvJae * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Siah1atm1Ddlb mutation (0 available); any Siah1a mutation (15 available)
Siah2tm1Ddlb mutation (0 available); any Siah2 mutation (21 available)
♀ phenotype observed in females
♂ phenotype observed in males
N normal phenotype
mortality/aging
perinatal lethality, complete penetrance ( J:86820 )
• pups die within hours of birth; cause of death unknown
prenatal lethality, incomplete penetrance ( J:86820 )
• homozygotes are born at below expected frequency




Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
04/23/2024
MGI 6.23 		The Jackson Laboratory