Phenotypes associated with this allele

• Allele Symbol: Isca1^{tm1b(KOMP)Wtsi}
• Allele Name: targeted mutation 1b, Wellcome Trust Sanger Institute
• Allele ID: MGI:5585595
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Isca1^tm1b(KOMP)Wtsi/Isca1^tm1b(KOMP)Wtsi	C57BL/6N-A^tm1Brd Isca1^tm1b(KOMP)Wtsi/JMmucd	MGI:6378433
hm2	Isca1^tm1b(KOMP)Wtsi/Isca1^tm1b(KOMP)Wtsi	B6N(Cg)-Isca1^tm1b(KOMP)Wtsi/2J	MGI:5767697
ht3	Isca1^tm1b(KOMP)Wtsi/Isca1^+	B6N(Cg)-Isca1^tm1b(KOMP)Wtsi/2J	MGI:5797607

Genotype
MGI:6378433

hm1

• Allelic Composition: Isca1^{tm1b(KOMP)Wtsi}/Isca1^{tm1b(KOMP)Wtsi}
• Genetic Background: C57BL/6N-A^tm1Brd Isca1^{tm1b(KOMP)Wtsi}/JMmucd
• Cell Lines: EPD0855_4_A09

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

Isca1^{tm1b(KOMP)Wtsi}/Isca1^{tm1b(KOMP)Wtsi} mice exhibit embryonic lethality, with embryos recovered at E7.5 but not at E9.5. Embryos are smaller and form a rudimentary egg cylinder but no primitive streak or hallmarks of gastrulation are seen at E7.5.

mortality/aging

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

• homozygous embryos are recovered in approximate Mendelian ratios at E7.5 (32% versus expected 25%, n=28) but arrest prior to gastrulation; no homozygous embryos are recovered at E9.5

embryo

failure to gastrulate ( J:290315 , J:279207 )

• no morphological hallmarks typical of gastrulating embryos are observed at E7.5 (J:279207)

embryonic growth arrest ( J:279207 )

• embryos arrest prior to gastrulation

decreased embryo size ( J:279207 )

• embryos are 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 smaller than controls at E7.5

Genotype
MGI:5767697

hm2

• Allelic Composition: Isca1^{tm1b(KOMP)Wtsi}/Isca1^{tm1b(KOMP)Wtsi}
• Genetic Background: B6N(Cg)-Isca1^{tm1b(KOMP)Wtsi}/2J
• Cell Lines: EPD0855_4_A09

Data Sources

IMPC Data for Isca1

mortality/aging

embryonic lethality prior to tooth bud stage ( J:211773 )

IMPC - JAX

embryonic lethality prior to organogenesis ( J:211773 )

IMPC - JAX

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

Genotype
MGI:5797607

ht3

• Allelic Composition: Isca1^{tm1b(KOMP)Wtsi}/Isca1⁺
• Genetic Background: B6N(Cg)-Isca1^{tm1b(KOMP)Wtsi}/2J
• Cell Lines: EPD0855_4_A09

Data Sources

IMPC Data for Isca1

behavior/neurological

decreased exploration in new environment ( J:211773 )

IMPC - JAX

decreased vertical activity ( J:211773 )

IMPC - JAX

decreased locomotor activity ( J:211773 )

♀

IMPC - JAX