Phenotypes associated with this allele

• Allele Symbol: Etl4⁺
• Allele Name: wild type
• Allele ID: MGI:2430482
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
ht1	Etl4^Gt(6LSN)6029Gos/Etl4^+	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:3714068
ht2	Etl4^Gt(pU8)80211Imeg/Etl4^+	involves: C57BL/6NCrlj * CBA/JNCrlj	MGI:3714042
cn3	Etl4^tm1(cre)Kymm/Etl4^+ Tg(CAG-EGFP-CAT-DTA)2Masa/0	involves: C3H * C57BL/6NCrlj * CBA/JNCrlj	MGI:5436107
cx4	Etl4^Gt(6LSN)6029Gos/Etl4^+ Etn2^Sd/Etn2^+	involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI	MGI:3714070
cx5	Etl4^Gt(pU8)80211Imeg/Etl4^+ Etn2^Sd/Etn2^+	involves: C57BL/6 * CBA * Danforth's duplication stock * STOCK Mcoln3^Va	MGI:3714044

Genotype
MGI:3714068

ht1

• Allelic Composition: Etl4^{Gt(6LSN)6029Gos}/Etl4⁺
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6

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

skeleton

skeleton phenotype ( J:49126 )

N • mutants with mutations in cis have vertebral columns that are normal in appearance with normal numbers of vertebrae that are similar in size and morphology to wild-type

Genotype
MGI:3714042

ht2

• 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:5436107

cn3

• Allelic Composition: Etl4^tm1(cre)Kymm/Etl4⁺; Tg(CAG-EGFP-CAT-DTA)2Masa/0
• Genetic Background: involves: C3H * C57BL/6NCrlj * CBA/JNCrlj

mortality/aging

preweaning lethality ( J:187217 )

• only 2/58 double mutant offspring are identified from crosses of cre-expressing mice with DTA-transgenic mice

skeleton

abnormal nucleus pulposus morphology ( J:187217 )

• at 8 weeks, histological analyses of caudal intervertebral disks show reductions of Safranin O-positive nucleus pulposus cells compared to wild-type

behavior/neurological

behavior/neurological phenotype ( J:187217 )

N • double mutants display no gait or behavioral abnormalities through sexual maturation

Genotype
MGI:3714070

cx4

• Allelic Composition: Etl4^{Gt(6LSN)6029Gos}/Etl4⁺; Etn2^Sd/Etn2⁺
• Genetic Background: involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI

skeleton

skeleton phenotype ( J:49126 )

N • in mutants carrying mutations in cis, ventral ossification center in the axis is normal or only slightly reduced, and dens axis is partially or completely restored compared to mice with mutantions in trans

abnormal vertebral column morphology ( J:49126 )

• at E16.5, vertebral columns are severely malformed or completely deleted caudal to the sacral region in mutants with alleles in trans

abnormal odontoid process morphology ( J:49126 )

• in most cases, no dens axis is present (cranial protrusion of second cervical vertebra) at E16.5 in mutants with alleles in trans

abnormal lumbar vertebrae morphology ( J:49126 )

• mice show obvious defects at the upper lumbar levels by E16.5 in mutants with alleles in trans

abnormal sacral vertebrae morphology ( J:49126 )

• some mice with the two mutations in cis show mild defects in sacral vertebrae, while remainder show defects exclusively in the caudal end of the vertebral column

abnormal vertebral body morphology ( J:49126 )

• at upper lumbar level, vertebral bodies are split ventrally; deletions or malformations in the dorsal portion of the vertebrae are present in lower lumbar level in mutants with alleles in trans

• dorsoventral diameter of the vertebral body of the axis is further reduced

limbs/digits/tail

short tail ( J:49126 )

• tails of compound heterozygotes carrying the mutations in trans are shorter than Sd heterozygotes, whereas compound mutants carrying the mutations in cis have a similar tail length phenotype to Sd heterozygotes

• tail lengths fall into three groups: group 1 animals have no tails or short, filamentous tail remnants, group 2 animals have tails between 1 and 2 cm in length, and group 3 animals have tails longer than 2 cm

• 4%, 11%, and 85% of compound heterozygotes with mutations in cis fall into groups1, 2, and 3 respectively, while percentages of mutants with alleles in trans are 71, 26, and 3% respectively in groups 1, 2, and 3; thus tail length is increased when alleles are in cis and length is decreased when mutations are carried in trans

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