Phenotypes associated with this allele

• Allele Symbol: Eftud2⁺
• Allele Name: wild type
• Allele ID: MGI:2439459
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Eftud2^tm1b(KOMP)Wtsi/Eftud2^+	C57BL/6N-Eftud2^tm1b(KOMP)Wtsi/Ics	MGI:5797498
ht2	Eftud2^em1Lajm/Eftud2^+	involves: C57BL/6	MGI:6358542
ht3	Eftud2^em2Lajm/Eftud2^+	involves: CD-1 * FVB/N	MGI:6358540

Genotype
MGI:5797498

ht1

• Allelic Composition: Eftud2^{tm1b(KOMP)Wtsi}/Eftud2⁺
• Genetic Background: C57BL/6N-Eftud2^{tm1b(KOMP)Wtsi}/Ics
• Cell Lines: EPD0586_1_C02

Data Sources

IMPC Data for Eftud2

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

behavior/neurological

decreased exploration in new environment ( J:211773 )

♂

IMPC - ICS

decreased startle reflex ( J:211773 )

♂

IMPC - ICS

increased startle reflex ( J:211773 )

♂

IMPC - ICS

decreased grip strength ( J:211773 )

IMPC - ICS

cardiovascular system

abnormal heart left ventricle morphology ( J:211773 )

IMPC - ICS

decreased heart left ventricle size ( J:211773 )

IMPC - ICS

increased heart left ventricle size ( J:211773 )

♀

IMPC - ICS

thick ventricular wall ( J:211773 )

IMPC - ICS

increased cardiac muscle contractility ( J:211773 )

IMPC - ICS

hematopoietic system

thrombocytosis ( J:211773 )

♂

IMPC - ICS

decreased leukocyte cell number ( J:211773 )

♀

IMPC - ICS

decreased lymphocyte cell number ( J:211773 )

♀

IMPC - ICS

homeostasis/metabolism

increased circulating cholesterol level ( J:211773 )

IMPC - ICS

increased circulating HDL cholesterol level ( J:211773 )

IMPC - ICS

increased circulating calcium level ( J:211773 )

IMPC - ICS

increased circulating serum albumin level ( J:211773 )

IMPC - ICS

increased circulating total protein level ( J:211773 )

IMPC - ICS

immune system

decreased leukocyte cell number ( J:211773 )

♀

IMPC - ICS

decreased lymphocyte cell number ( J:211773 )

♀

IMPC - ICS

muscle

increased cardiac muscle contractility ( J:211773 )

IMPC - ICS

Genotype
MGI:6358542

ht2

• Allelic Composition: Eftud2^em1Lajm/Eftud2⁺
• Genetic Background: involves: C57BL/6

mortality/aging

neonatal lethality, incomplete penetrance ( J:278323 )

• the number of heterozygous pups present at weaning is fewer than expected, however normal numbers are seen before birth and at P0 indicating that some mice die shortly after birth

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	mandibulofacial dysostosis, Guion-Almeida type	DOID:0080196	OMIM:610536	J:278323

Genotype
MGI:6358540

ht3

• Allelic Composition: Eftud2^em2Lajm/Eftud2⁺
• Genetic Background: involves: CD-1 * FVB/N

embryo

embryonic growth retardation ( J:278323 )

• embryos are developmentally delayed between E8.5 and E9.5, having 2-3 pairs of somites less than wild-type littermates

• however, this reduction is no longer seen at E10.5

growth/size/body

embryonic growth retardation ( J:278323 )

• embryos are developmentally delayed between E8.5 and E9.5, having 2-3 pairs of somites less than wild-type littermates

• however, this reduction is no longer seen at E10.5

reproductive system

reproductive system phenotype ( J:278323 )

N • mice are viable and fertile

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
NOT	mandibulofacial dysostosis, Guion-Almeida type	DOID:0080196	OMIM:610536	J:278323