Phenotypes Associated with This Genotype

Genotype
MGI:2174733

• Allelic Composition: f/f
• Genetic Background: Not Specified

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

mortality/aging

postnatal lethality, incomplete penetrance ( J:12951 )

• death rate in the first 3 to 4 weeks after birth is about 4 times normal

limbs/digits/tail

caudal vertebral fusion ( J:13090 )

• flexure due to unilateral fusions of successive vertebrae

• first appears around E14

kinked tail ( J:12951 )

• 1-5 permanent angles in tail

• sometimes curves and spirals instead of sharp angles

• tails can occasionally be nearly normal

skeleton

abnormal vertebrae morphology ( J:13090 )

abnormal intervertebral disk development ( J:13090 )

• abnormal development

• fibrous pad sometimes fails to develop or does not develop on one side

vertebral fusion ( J:13090 )

• fusions seen in caudal vertebrae also seen throughout the vertebral column

caudal vertebral fusion ( J:13090 )

• flexure due to unilateral fusions of successive vertebrae

• first appears around E14

hematopoietic system

abnormal definitive hematopoiesis ( J:13598 )

• delayed maturation of committed erythroid stem cells

• adults with a poor response to hemopoietic stress

anemia ( J:12951 , J:13090 )

• anemia at E14 through birth (J:13090)

• hematopoesis problem in the liver (J:13090)

• anemia becomes less severe after E16 when hematopoetic function of bone marrow begins (J:13090)

• recovery from anemia in the first 2 weeks of life (J:13090)

hypochromic microcytic anemia ( J:13598 )

• transitory hypochromic and microcytic anemia

decreased erythrocyte cell number ( J:13090 )

• reduced RBC counts from E14 through birth

• adult RBC counts are normal

homeostasis/metabolism

abnormal iron homeostasis ( J:13598 )

• defective heme synthesis

growth/size/body

abnormal head morphology ( J:12951 )

• sometimes there is a dorsal enlargement of the head in front of the ears

decreased body size ( J:13090 )

• smaller size at birth and through adulthood

vision/eye

eyelids fail to open ( J:12951 )

• one or both eyes sometimes remain closed

pigmentation

belly spot ( J:13598 )

embryo

abnormal neural tube morphology ( J:13090 )

• a minority of homozygotes assessed during embryonic development are found to have irregular lumen shape, longitudinal waves or angles of the tube, or locally doubled neural tube

abnormal notochord morphology ( J:13090 )

• a minority of homozygotes assessed during embryonic development are found to have ventral swelling of the notochord, dorsal projections, bifurcate notochord, or other morphological abnormalities in the notochord

nervous system

abnormal neural tube morphology ( J:13090 )

• a minority of homozygotes assessed during embryonic development are found to have irregular lumen shape, longitudinal waves or angles of the tube, or locally doubled neural tube

integument

belly spot ( J:13598 )