Phenotypes associated with this allele

• Allele Symbol: Ska2^{tm1b(KOMP)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5503136
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Ska2^tm1b(KOMP)Wtsi/Ska2^tm1b(KOMP)Wtsi	B6N(Cg)-Ska2^tm1b(KOMP)Wtsi/J	MGI:5631540
ht2	Ska2^tm1b(KOMP)Wtsi/Ska2^+	B6N(Cg)-Ska2^tm1b(KOMP)Wtsi/J	MGI:5631539

Genotype
MGI:5631540

hm1

• Allelic Composition: Ska2^{tm1b(KOMP)Wtsi}/Ska2^{tm1b(KOMP)Wtsi}
• Genetic Background: B6N(Cg)-Ska2^{tm1b(KOMP)Wtsi}/J
• Cell Lines: EPD0570_3_F06

Data Sources

IMPC Data for Ska2

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

Ska2^{tm1b(KOMP)Wtsi}/Ska2^{tm1b(KOMP)Wtsi} mice exhibit embryonic lethality, with arrest prior to gastrulation and no embryos seen at E9.5. Embryos are smaller and form a rudimentary egg-cyliner but no primitive streak or hallmarks typical of gastrulation are seen at E75.

embryo

failure to gastrulate ( J:279207 )

• no morphological hallmarks typical of gastrulating embryos are observed at E7.5

embryonic growth arrest ( J:279207 )

• embryos arrest prior to gastrulation

decreased embryo size ( J:279207 )

• embryos are much smaller than controls at E7.5

abnormal egg cylinder morphology ( J:279207 )

• a rudimentary egg cylinder is observed at E7.5

absent head fold ( J:279207 )

• no head folds are present at E7.5

absent primitive node ( J:279207 )

• no embryonic node is present at E7.5

failure of primitive streak formation ( J:279207 )

• no morphological evidence of primitive streak formation is observed at E7.5

growth/size/body

decreased embryo size ( J:279207 )

• embryos are much smaller than controls at E7.5

mortality/aging

embryonic lethality prior to organogenesis ( J:211773 )

IMPC - JAX

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality between implantation and placentation, complete penetrance ( J:279207 )

• homozygous embryos are recovered at E7.5 (18% versus expected 25%, n=38) and arrest prior to gastrulation; no homozygous embryos are recovered at E9.5

Genotype
MGI:5631539

ht2

• Allelic Composition: Ska2^{tm1b(KOMP)Wtsi}/Ska2⁺
• Genetic Background: B6N(Cg)-Ska2^{tm1b(KOMP)Wtsi}/J
• Cell Lines: EPD0570_3_F06

Data Sources

IMPC Data for Ska2

behavior/neurological

hyperactivity ( J:211773 )

♀

IMPC - JAX

hematopoietic system

thrombocytopenia ( J:211773 )

♀

IMPC - JAX

homeostasis/metabolism

increased circulating bilirubin level ( J:211773 )

♀

IMPC - JAX

increased circulating HDL cholesterol level ( J:211773 )

♀

IMPC - JAX

decreased circulating free fatty acids level ( J:211773 )

IMPC - JAX

decreased circulating triglyceride level ( J:211773 )

IMPC - JAX

increased circulating alanine transaminase level ( J:211773 )

♀

IMPC - JAX

increased circulating alkaline phosphatase level ( J:211773 )

♀

IMPC - JAX