Phenotypes associated with this allele

• Allele Symbol: Etl4^{Gt(pU8)80211Imeg}
• Allele Name: gene trap 80211, Institute of Molecular Embryology and Genetics
• Allele ID: MGI:3624627
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Etl4^Gt(pU8)80211Imeg/Etl4^Gt(pU8)80211Imeg	B6.Cg-Etl4^Gt(pU8)80211Imeg	MGI:3714041
hm2	Etl4^Gt(pU8)80211Imeg/Etl4^Gt(pU8)80211Imeg	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:5432106
ht3	Etl4^Gt(pU8)80211Imeg/Etl4^+	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:3714042
cx4	Etl4^Gt(pU8)80211Imeg/Etl4^Gt(pU8)80211Imeg Etn2^Sd/Etn2^+	involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va	MGI:3714045
cx5	Etl4^Gt(pU8)80211Imeg/Etl4^+ Etn2^Sd/Etn2^+	involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va	MGI:3714044

Genotype
MGI:3714041

hm1

• Allelic Composition: Etl4^{Gt(pU8)80211Imeg}/Etl4^{Gt(pU8)80211Imeg}
• Genetic Background: B6.Cg-Etl4^{Gt(pU8)80211Imeg}

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

skeleton

abnormal intervertebral disk development ( J:105155 )

• layers of annulus fibrosus are thin

• failure of fibrous adhesion to vertebral bodies is observed

• phenotype is observed even in progeny backcrossed to C57BL/6 ten generations

abnormal nucleus pulposus morphology ( J:105155 )

• dislocation of the nucleus pulposus is observed even in progeny backcrossed to C57BL/6 ten generations

Genotype
MGI:5432106

hm2

• Allelic Composition: Etl4^{Gt(pU8)80211Imeg}/Etl4^{Gt(pU8)80211Imeg}
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

skeleton

abnormal caudal vertebrae morphology ( J:105155 )

• shortened and curved vertebrae are apparent at 2 weeks of age; this is restricted to caudal vertebrae 20 to 25

abnormal intervertebral disk morphology ( J:105155 )

• at E17.5, some intervertebral disks (IVDs) are compressed relative to wild-type, but at this age, size of IVDs are same as wild-type

• at 8 weeks, nucleus pulposus is dislocated to periphery of IVD in homozygotes with kinked and normal-appearing tails

• from caudal vertebrae 5 to 25, irregular boundary with direct contact between the nucleus pulposus the annulus fibrosus, compared to sharp boundary seen in wild-type

abnormal intervertebral disk development ( J:105155 )

• at 2 weeks, IVDs have disappeared due to nucleus pulposi abnormalities

abnormal nucleus pulposus morphology ( J:105155 )

• at 2 weeks, nuclei pulposi are smaller and eccentric compared to wild-type

• at 8 weeks, nucleus pulposus of IVDs of tail region contains aggregation of notochord-like cells with paucity of vacuoles relative to wild-type; nucleus pulposus is dislocated to periphery of IVD

• in upper regions, appearance is normal

absent intervertebral disk ( J:105155 )

• in 2 week-old mutants, nuclei pulposi are smaller and eccentric, resulting in disappearance of normal IVDs

abnormal vertebral body morphology ( J:105155 )

• in neonatal mice, alignment of vertebral bodies is undulated

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:105155 )

• shortened and curved vertebrae are apparent at 2 weeks of age; this is restricted to caudal vertebrae 20 to 25

kinked tail ( J:105155 )

• observed in 53% of homozygotes at 4 weeks

Genotype
MGI:3714042

ht3

• Allelic Composition: Etl4^{Gt(pU8)80211Imeg}/Etl4⁺
• Genetic Background: involves: C57BL/6NCrlj * CBA/JNCrlj

normal phenotype

no abnormal phenotype detected ( J:105155 )

• animals appear normal, and are fertile

Genotype
MGI:3714045

cx4

• Allelic Composition: Etl4^{Gt(pU8)80211Imeg}/Etl4^{Gt(pU8)80211Imeg}; Etn2^Sd/Etn2⁺
• Genetic Background: involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va

mortality/aging

postnatal lethality ( J:105155 )

• mice die within 48 hours of birth

limbs/digits/tail

short tail ( J:105155 )

• neonates have shorter tails than compound heterozygotes

skeleton

short vertebral column ( J:105155 )

• vertebral columns are truncated at ~fourth sacral vertebral body

Genotype
MGI:3714044

cx5

• Allelic Composition: Etl4^{Gt(pU8)80211Imeg}/Etl4⁺; Etn2^Sd/Etn2⁺
• Genetic Background: involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va

mortality/aging

postnatal lethality ( J:105155 )

• all mice die within 2 weeks of birth

embryo

abnormal notochord morphology ( J:105155 )

• by E13.5 notochord is fragmented in cis and trans compound heterozygotes

small notochord ( J:105155 )

• notochords of cis and trans compound heterozygotes are thin at E9.5

limbs/digits/tail

short tail ( J:105155 )

• both cis and trans compound heterozygotes have shorter tails

skeleton

absent nucleus pulposus ( J:105155 )

• nucleus pulposus is completely absent and is replaced by peripheral fibers similar to those in annulus fibrosus in all intervertebral disks

short vertebral column ( J:105155 )

• vertebral column is truncated at the second and third caudal vertebral body in trans and cis compound mutants