Phenotypes associated with this allele

• Allele Symbol: U2af2^em1(IMPC)J
• Allele Name: endonuclease-mediated mutation 1, Jackson
• Allele ID: MGI:6379288
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	U2af2^em1(IMPC)J/U2af2^em1(IMPC)J	C57BL/6NJ-U2af2^em1(IMPC)J/Mmjax	MGI:6731480
ht2	U2af2^em1(IMPC)J/U2af2^+	C57BL/6NJ-U2af2^em1(IMPC)J/Mmjax	MGI:6731479

Genotype
MGI:6731480

hm1

• Allelic Composition: U2af2^em1(IMPC)J/U2af2^em1(IMPC)J
• Genetic Background: C57BL/6NJ-U2af2^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for U2af2

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

U2af2^em1(IMPC)J/U2af2^em1(IMPC)J mice exhibit embryonic lethality, with embryos recovered at E3.5 as early blastocysts but not at E7.5. Blastocysts fail to hatch from the zona pellucida and are dead after 72 hr in vitro outgrowth culture.

embryo

failure of blastocyst to hatch from the zona pellucida ( J:279207 )

• in vitro outgrowth assays show that blastocysts fail to hatch from the zona pellucida and are dead after 3 days in culture

mortality/aging

embryonic lethality prior to organogenesis ( J:211773 )

IMPC - JAX

preweaning lethality, complete penetrance ( J:211773 )

IMPC - JAX

embryonic lethality before implantation, complete penetrance ( J:279207 )

• although early blastocysts are present in expected Mendelian ratios at E3.5, no homozygous embryos or excess resorption sites are observed at E7.5

Genotype
MGI:6731479

ht2

• Allelic Composition: U2af2^em1(IMPC)J/U2af2⁺
• Genetic Background: C57BL/6NJ-U2af2^em1(IMPC)J/Mmjax

Data Sources

IMPC Data for U2af2

hearing/vestibular/ear

abnormal auditory brainstem response ( J:211773 )

IMPC - JAX

hematopoietic system

increased leukocyte cell number ( J:211773 )

IMPC - JAX

homeostasis/metabolism

decreased circulating calcium level ( J:211773 )

IMPC - JAX

abnormal cholesterol homeostasis ( J:211773 )

♀

IMPC - JAX

immune system

increased leukocyte cell number ( J:211773 )

IMPC - JAX

skeleton

increased bone mineral density ( J:211773 )

IMPC - JAX