Phenotypes Associated with This Genotype

Genotype
MGI:3714072

• Allelic Composition: Etn2^Sd/Etn2⁺
• Genetic Background: involves: NMRI

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

skeleton

abnormal vertebrae morphology ( J:49126 )

• mice show obvious defects up to the lower lumbar levels at E16.5

abnormal caudal vertebrae morphology ( J:49126 )

• vertebrae at caudal level are malformed

absent caudal vertebrae ( J:49126 )

• most caudal vertebrae are completely deleted

abnormal cervical axis morphology ( J:49126 )

• vertebrae lack ossification center in centrum of the axis

abnormal odontoid process morphology ( J:49126 )

• severely reduced or missing dens axis (cranial protrusion of second cervical vertebra) at E16.5

abnormal lumbar vertebrae morphology ( J:49126 )

abnormal sacral vertebrae morphology ( J:49126 )

• vertebrae are severely malformed in animals at E16.5

absent sacral vertebrae ( J:49126 )

• sacral level vertebrae may be partially or totally deleted ventrally

abnormal vertebral body morphology ( J:49126 )

limbs/digits/tail

abnormal caudal vertebrae morphology ( J:49126 )

• vertebrae at caudal level are malformed

absent caudal vertebrae ( J:49126 )

• most caudal vertebrae are completely deleted

short tail ( J:49126 )

• 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

• 26%, 48%, and 26% of heterozygotes with mutations in cis fall into groups1, 2, and 3 respectively