Phenotypes associated with this allele

• Allele Symbol: Usb1^em1(IMPC)Bay
• Allele Name: endonuclease-mediated mutation 1, Baylor College of Medicine
• Allele ID: MGI:6257807
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Usb1^em1(IMPC)Bay/Usb1^em1(IMPC)Bay	C57BL/6N-Usb1^em1(IMPC)Bay/BayMmucd	MGI:6408755
hm2	Usb1^em1(IMPC)Bay/Usb1^em1(IMPC)Bay	C57BL/6N-Usb1^em1(IMPC)Bay/Mmmh	MGI:8264718

Genotype
MGI:6408755

hm1

• Allelic Composition: Usb1^em1(IMPC)Bay/Usb1^em1(IMPC)Bay
• Genetic Background: C57BL/6N-Usb1^em1(IMPC)Bay/BayMmucd

Data Sources

IMPC Data for Usb1

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

homeostasis/metabolism

edema ( J:211773 )

IMPC - BCM

mortality/aging

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

IMPC - BCM

preweaning lethality, complete penetrance ( J:211773 )

IMPC - BCM

Genotype
MGI:8264718

hm2

• Allelic Composition: Usb1^em1(IMPC)Bay/Usb1^em1(IMPC)Bay
• Genetic Background: C57BL/6N-Usb1^em1(IMPC)Bay/Mmmh

A minority of Usb1^em1(IMPC)Bay/Usb1^em1(IMPC)Bay (-/-) embryos are developmentally delayed and have abnormal tail shape at E9.5. Almost all E10.5 embryos are delayed, have abnormal blood deposition, abnormally shaped branchial arches and head, and some have abnormal tails and incomplete turning.

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:374598 )

• homozygous embryos are present in Mendelian ratios at E9.5 and E10.5 but absent at E12.5

growth/size/body

abnormal head shape ( J:374598 )

• by E10.5, all homozygous embryos exhibit an abnormal head shape, particularly in the forebrain region

embryonic growth retardation ( J:374598 )

• a minority of homozygous embryos are developmentally delayed at E9.5 and nearly all are delayed by E10.5

• however, all homozygous embryos are overtly normal at E8.5 and most show no discernible phenotype at E9.5

• at E9.5, germ layer patterning, including heart development and liver budding, is normal

embryo

abnormal pharyngeal arch morphology ( J:374598 )

• by E10.5, many homozygous embryos show abnormally shaped branchial arches

incomplete embryo turning ( J:374598 )

• at E10.5, a minority of homozygous embryos exhibit incomplete turning

embryonic growth retardation ( J:374598 )

• a minority of homozygous embryos are developmentally delayed at E9.5 and nearly all are delayed by E10.5

• however, all homozygous embryos are overtly normal at E8.5 and most show no discernible phenotype at E9.5

• at E9.5, germ layer patterning, including heart development and liver budding, is normal

abnormal placenta labyrinth morphology ( J:374598 )

• at E10.5, placentas exhibit multiple labyrinth zone defects

abnormal trophoblast layer morphology ( J:374598 )

• at E10.5, the Tfeb+ labyrinth trophoblast layer is reduced

abnormal placenta development ( J:374598 )

• at E10.5, chorioallantoic branching is nearly absent, as Gcm1 expression is sparse and remains at the chorioallantoic interface

• however, placentas appear properly developed at E9.5

craniofacial

abnormal pharyngeal arch morphology ( J:374598 )

• by E10.5, many homozygous embryos show abnormally shaped branchial arches

abnormal head shape ( J:374598 )

• by E10.5, all homozygous embryos exhibit an abnormal head shape, particularly in the forebrain region

limbs/digits/tail

abnormal tail morphology ( J:374598 )

• at E9.5 and E10.5, a minority of homozygous embryos exhibit abnormal tail morphology/shape

nervous system

abnormal forebrain morphology ( J:374598 )

• by E10.5, all homozygous embryos exhibit an abnormal forebrain

cardiovascular system

hemorrhage ( J:374598 )

• by E10.5, most homozygous embryos exhibit abnormal blood deposition