Phenotypes associated with this allele

• Allele Symbol: Ssbp3^{Tg(SOD1)1Hssk}
• Allele Name: transgene insertion 1, Hiroshi Sasaki
• Allele ID: MGI:3663636
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ssbp3^Tg(SOD1)1Hssk/Ssbp3^Tg(SOD1)1Hssk	involves: C3H/He * C57BL/6	MGI:3663938
ht2	Ssbp3^Tg(SOD1)1Hssk/Ssbp3^+	involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR	MGI:3663942
ht3	Ssbp3^Tg(SOD1)1Hssk/Ssbp3^+	involves: C3H/He * C57BL/6	MGI:3663945
cx4	Lhx1^tm1Bhr/Lhx1^+ Ssbp3^Tg(SOD1)1Hssk/Ssbp3^+	involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR	MGI:3663940
cx5	Ldb1^tm1Lmgd/Ldb1^+ Ssbp3^Tg(SOD1)1Hssk/Ssbp3^+	involves: C3H/He * C57BL/6	MGI:3663943

Genotype
MGI:3663938

hm1

• Allelic Composition: Ssbp3^{Tg(SOD1)1Hssk}/Ssbp3^{Tg(SOD1)1Hssk}
• Genetic Background: involves: C3H/He * C57BL/6

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

mortality/aging

lethality throughout fetal growth and development, incomplete penetrance ( J:98485 )

• up to E10.5, numbers of homozygotes conform to expected but decline from E11.5 onward such that only 3.4% of progeny at birth are homozygous

embryonic lethality during organogenesis, incomplete penetrance ( J:98485 )

• up to E10.5, numbers of homozygotes conform to expected but decline from E11.5 onward

growth/size/body

decreased embryo size ( J:98485 )

• at E9.0 ~50% of homozygotes are significantly smaller than wild-type littermates

abnormal anterior head development ( J:98485 )

• head development is disrupted in homozygotes; penetrance of head defects are 100%

• at E9.5 absence of the anterior head structures is evident

microcephaly ( J:98485 )

• head is smaller than wild-type

embryo

decreased embryo size ( J:98485 )

• at E9.0 ~50% of homozygotes are significantly smaller than wild-type littermates

abnormal cephalic neural fold morphology ( J:98485 )

• at E8.5, abnormalities of the anterior neural folds are observed

abnormal neural plate morphology ( J:98485 )

• at E8.5, the head neural plate remained flat; at E9.5 absence of the anterior head structures is evident

kinked neural tube ( J:98485 )

• in mutants neural tube is thin and kinked

absent prechordal plate ( J:98485 )

• development of the prechordal plate is compromised in homozygotes as indicated by Cer1 expression, a marker of the prechordal plate and anterior mesoderm and anterior definitive endoderm (ADE) being strongly reduced or absent

• Dkk1 expression, normally present in the anterior-most prechordal plate and anterior margin of the head mesoderm is absent at E7.75 (late headfold stage): Foxa2 and Gsc, normally expressed in the prechordal plate at E8.0 is absent from the anterior midline suggesting abnormal prechordal plate development

• unlike in wild-type, at E8.0 the prechordal plate fails to contact the neuroectoderm, or tissue anterior to the notochordal plate is of similar thickness to the notochordal plate, or both, indicating a lack of differentiated prechordal plate

abnormal somite development ( J:98485 )

• in some cases somites are not formed

abnormal somite shape ( J:98485 )

• somites are irregular in shape

decreased somite size ( J:98485 )

• somites are small in mutants

craniofacial

abnormal cranium morphology ( J:98485 )

• skull derivatives posterior to and including the supraoccipital bone develop normally but the bone anterior to those is abnormal and unidentifiable in P0 mutant neonates

nervous system

abnormal neural plate morphology ( J:98485 )

• at E8.5, the head neural plate remained flat; at E9.5 absence of the anterior head structures is evident

kinked neural tube ( J:98485 )

• in mutants neural tube is thin and kinked

abnormal brain development ( J:98485 )

• neuroectoderm anterior to the midbrain-hindbrain boundary is specified but is lost by E8.5 in some mutants; no increase in apoptosis is observed in mutants along with tissue loss

abnormal forebrain development ( J:98485 )

• expression of Six3 that marks the forebrain plate is absent at E8.5 at the anterior margin of the neural plate

abnormal telencephalon development ( J:98485 )

• Foxg1, a marker of the telencephalon, is not expressed in homozygotes

abnormal midbrain development ( J:98485 )

• expression of Otx2 which extends caudally from the anterior margin of the neural plate to mark the midbrain is absent or confined to the anterior-most tip at E8.5; Six3 is detected at E8.0 in homozygotes with a slightly reduced expression domain

abnormal midbrain-hindbrain boundary development ( J:98485 )

• midbrain-hindbrain boundary En2, Fgf8 and Wnt1 are absent from the boundary region or are expressed at the anterior tip

absent diencephalon ( J:98485 )

• Pax6, a marker of the diencephalon, is not expressed in homozygotes

cellular

increased apoptosis ( J:98485 )

• apoptosis is similar at E8.0 and E8.5 in mutant and wild-type embryos; at E9.0, there are significantly more apoptotic cells in the head neuroectoderm and somites of mutants

decreased cell proliferation ( J:98485 )

• at E8.0, mutants and wild-type show similar levels of cell proliferation; at E8.5 and 9.0, the global increase in proliferation seen in wild-type is attenuated in all examined tissues of homozygotes

skeleton

abnormal cranium morphology ( J:98485 )

• skull derivatives posterior to and including the supraoccipital bone develop normally but the bone anterior to those is abnormal and unidentifiable in P0 mutant neonates

abnormal sternum morphology ( J:98485 )

• some P0 neonates show anteroposterior dislocation of the left and right halves of the sternum

decreased sternebra number ( J:98485 )

• there is a reduction in sternebra number in some P0 neonates

asymmetric sternocostal joints ( J:98485 )

• in some homozygotes, rib attachment to the sternum is asymmetric in some P0 neonates

rib bifurcation ( J:98485 )

• observed in some mutants

rib fusion ( J:98485 )

• observed in some mutants

abnormal vertebral body morphology ( J:98485 )

• in some mutants, vertebral body is absent or reduced while others display lateral splitting of the vertebral body

limbs/digits/tail

short tail ( J:98485 )

• in some mutants, the tail is shortened

Genotype
MGI:3663942

ht2

• Allelic Composition: Ssbp3^{Tg(SOD1)1Hssk}/Ssbp3⁺
• Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

normal phenotype

no abnormal phenotype detected ( J:98485 )

• single heterozygotes from intercrosses with Lhx1^tm1Bhr/+ mice appear normal at E9.0-9.5

Genotype
MGI:3663945

ht3

• Allelic Composition: Ssbp3^{Tg(SOD1)1Hssk}/Ssbp3⁺
• Genetic Background: involves: C3H/He * C57BL/6

normal phenotype

no abnormal phenotype detected ( J:98485 )

• some single heterozygotes from intercrosses with Ldb1^tm1Lgmd/+ mice display mild growth retardation and mild microcephaly at E9.0-9.5

Genotype
MGI:3663940

cx4

• Allelic Composition: Lhx1^tm1Bhr/Lhx1⁺; Ssbp3^{Tg(SOD1)1Hssk}/Ssbp3⁺
• Genetic Background: involves: 129S7/SvEvBrd * C3H/He * C57BL/6 * ICR

growth/size/body

embryonic growth retardation ( J:98485 )

• some double heterozygotes display severe growth retardation and microcephaly

microcephaly ( J:98485 )

• double heterozygotes display variable degrees of microcephaly; some embryos appear normal, others display microcephaly while another subset show microcephaly and severe growth retardation

embryo

failure of initiation of embryo turning ( J:98485 )

• the most severely affected double heterozygotes fail to undergo embryonic turning

embryonic growth retardation ( J:98485 )

• some double heterozygotes display severe growth retardation and microcephaly

Genotype
MGI:3663943

cx5

• Allelic Composition: Ldb1^tm1Lmgd/Ldb1⁺; Ssbp3^{Tg(SOD1)1Hssk}/Ssbp3⁺
• Genetic Background: involves: C3H/He * C57BL/6

growth/size/body

embryonic growth retardation ( J:98485 )

• some double heterozygotes show varying degrees of growth retardation

microcephaly ( J:98485 )

• some double heterozygotes display varying degrees of microcephaly

embryo

embryonic growth retardation ( J:98485 )

• some double heterozygotes show varying degrees of growth retardation