Phenotypes associated with this allele

• Allele Symbol: Siah1a^tm1Ddlb
• Allele Name: targeted mutation 1, David D L Bowtell
• Allele ID: MGI:2183245
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Siah1a^tm1Ddlb/Siah1a^tm1Ddlb	involves: 129S1/Sv	MGI:3761118
hm2	Siah1a^tm1Ddlb/Siah1a^tm1Ddlb	involves: 129S1/Sv * C57BL/6J	MGI:2684062
cx3	Siah1a^tm1Ddlb/Siah1a^tm1Ddlb Siah2^tm1Ddlb/Siah2^tm1Ddlb	involves: 129S1/Sv * 129S4/SvJae	MGI:3761117
cx4	Siah1a^tm1Ddlb/Siah1a^tm1Ddlb Siah2^tm1Ddlb/Siah2^+	involves: 129S4/SvJae * C57BL/6J	MGI:2684007
cx5	Siah1a^tm1Ddlb/Siah1a^tm1Ddlb Siah2^tm1Ddlb/Siah2^tm1Ddlb	involves: 129S4/SvJae * C57BL/6J	MGI:2684008

Genotype
MGI:3761118

hm1

• Allelic Composition: Siah1a^tm1Ddlb/Siah1a^tm1Ddlb
• Genetic Background: involves: 129S1/Sv

• ♀: 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: Siah1a^tm1Ddlb/Siah1a^tm1Ddlb
• Genetic Background: involves: 129S1/Sv * C57BL/6J

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

abnormal seminiferous tubule epithelium morphology ( J:75489 )

♂ • vacuolated

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

small liver ( J:75489 )

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

abnormal seminiferous tubule epithelium morphology ( J:75489 )

♂ • vacuolated

small testis ( J:75489 )

♂ • testes were very small

♂ • normal levels of testosterone, FSH, and LH

abnormal spermatogenesis ( J:75489 )

♂

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

abnormal reproductive system physiology ( J:75489 )

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

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

Genotype
MGI:3761117

cx3

• Allelic Composition: Siah1a^tm1Ddlb/Siah1a^tm1Ddlb; Siah2^tm1Ddlb/Siah2^tm1Ddlb
• Genetic Background: involves: 129S1/Sv * 129S4/SvJae

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: Siah1a^tm1Ddlb/Siah1a^tm1Ddlb; Siah2^tm1Ddlb/Siah2⁺
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

mortality/aging

postnatal lethality, complete penetrance ( J:86820 )

• all are dead by day 5

perinatal lethality, incomplete penetrance ( J:86820 )

• most pups die within the first day; all are dead by day 5

Genotype
MGI:2684008

cx5

• Allelic Composition: Siah1a^tm1Ddlb/Siah1a^tm1Ddlb; Siah2^tm1Ddlb/Siah2^tm1Ddlb
• Genetic Background: involves: 129S4/SvJae * C57BL/6J

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