Phenotypes Associated with This Genotype

Genotype
MGI:3835654

• Allelic Composition: Elp1^{Gt(BGB184)Byg}/Elp1^{Gt(BGB184)Byg}
• Genetic Background: B6.129P2-^{Gt(BGB184)Byg}

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

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:145561 )

• no embryos are recovered at E12.5

• however, embryonic lethality can be rescued by over-expression of human IKBKAP

embryo

abnormal vitelline vasculature morphology ( J:145561 )

• at E9.5, only a primary capillary plexus has developed in the visceral yolk sac unlike in wild-type mice

incomplete embryo turning ( J:145561 )

• at E10.5

embryonic growth arrest ( J:145561 )

• at E9.5 to E10, development is arrested at the late egg cylinder stage

• mice exhibit no further development after E10.5

decreased embryo size ( J:145561 )

• at E7.5

abnormal embryonic tissue morphology ( J:145561 )

• by E7.5 and E9.5, extraembryonic components are smaller than in wild-type mice

absent pharyngeal arches ( J:145561 )

• at E10.5

absent limb buds ( J:145561 )

• at E10.5

incomplete rostral neuropore closure ( J:145561 )

small placenta ( J:145561 )

absent visceral yolk sac blood islands ( J:145561 )

• at E7.5

abnormal embryonic erythropoiesis ( J:145561 )

• at E9.5, no visible primitive nucleated red blood cells are observed unlike in wild-type mice

cardiovascular system

abnormal vascular development ( J:145561 )

• at E9.5 and E10, mice lack blood vessels unlike in wild-type mice

abnormal vitelline vasculature morphology ( J:145561 )

• at E9.5, only a primary capillary plexus has developed in the visceral yolk sac unlike in wild-type mice

nervous system

incomplete rostral neuropore closure ( J:145561 )

abnormal brain development ( J:145561 )

• at E10.5, brain structures are absent with the mid- and hindbrain wall-like structures irregularly aligned unlike in wild-type mice

growth/size/body

decreased embryo size ( J:145561 )

• at E7.5

limbs/digits/tail

absent limb buds ( J:145561 )

• at E10.5

craniofacial

absent pharyngeal arches ( J:145561 )

• at E10.5

hematopoietic system

abnormal embryonic erythropoiesis ( J:145561 )

• at E9.5, no visible primitive nucleated red blood cells are observed unlike in wild-type mice

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hemophagocytic lymphohistiocytosis		DOID:0050120	OMIM:PS267700	J:145561