Phenotypes associated with this allele

• Allele Symbol: Etl4^{Gt(6LSN)6029Gos}
• Allele Name: gene trap 6029, Achim Gossler
• Allele ID: MGI:3624626
• Summary: 5 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Etl4^Gt(6LSN)6029Gos/Etl4^Gt(6LSN)6029Gos	involves: 129/Sv * 129S2/SvPas	MGI:3714066
hm2	Etl4^Gt(6LSN)6029Gos/Etl4^Gt(6LSN)6029Gos	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:3714067
ht3	Etl4^Gt(6LSN)6029Gos/Etl4^+	involves: 129/Sv * 129S2/SvPas * C57BL/6	MGI:3714068
cx4	Etl4^Gt(6LSN)6029Gos/Etl4^+ Etn2^Sd/Etn2^+	involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI	MGI:3714070
cx5	Etl4^Gt(6LSN)6029Gos/Etl4^Gt(6LSN)6029Gos Etn2^Sd/Etn2^+	involves: 129/Sv * 129S2/SvPas * C57BL/6 * NMRI	MGI:3714071

Genotype
MGI:3714066

hm1

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

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

normal phenotype

no abnormal phenotype detected ( J:49126 )

• Background Sensitivity: on a 129/Sv isogenic background, mice show no overt phenotype

Genotype
MGI:3714067

hm2

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

embryo

abnormal notochord morphology ( J:49126 )

• bends in notochord have been observed in E12.5 and 13.5 embryos

skeleton

abnormal caudal vertebrae morphology ( J:49126 )

• in postnatal mice, caudal vertebrae show distorted shapes and abnormal articulations compared to wild-type

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:49126 )

• in postnatal mice, caudal vertebrae show distorted shapes and abnormal articulations compared to wild-type

kinked tail ( J:49126 )

• Background Sensitivity: one third of homozygotes on this hybrid background show tail kinks in caudal region; interbreeding of homozygotes increases penetrance to 50 to 70%

• Background Sensitivity: three C57BL/6 backcrosses to the isogenic mice results in an increased penetrance of the tail phenotype to 50% compared to isogenic homozygotes

Genotype
MGI:3714068

ht3

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

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: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:3714071

cx5

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:49126 )

• high rate (around 50%) of postnatal lethality is exhibited

skeleton

abnormal vertebral column morphology ( J:49126 )

• defects are similar or slightly worsened in extent, compared to compound homozygotes with the mutations in trans

short vertebral column ( J:49126 )

• defects are similar or slightly worsened in extent, compared to compound homozygotes with the mutations in trans

limbs/digits/tail

short tail ( J:49126 )

• mutants show tail length distribution similar to compound heterozygotes having mutations in trans

reproductive system

persistent cloaca ( J:49126 )

male infertility ( J:49126 )

♂ • 4 of 6 males tested were infertile

renal/urinary system

abnormal renal/urinary system morphology ( J:49126 )

• mice show various urogenital system abnormalities

persistent cloaca ( J:49126 )

renal hypoplasia ( J:49126 )

• mice have hypotrophic kidneys

digestive/alimentary system

persistent cloaca ( J:49126 )