Phenotypes Associated with This Genotype

Genotype
MGI:6719554

• Allelic Composition: Hip1^{tm5.1(HIP1)Tsr}/Hip1^{tm5.1(HIP1)Tsr}
• Genetic Background: involves: C57BL/6

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

growth/size/body

decreased body weight ( J:267987 )

• although overtly normal at birth, all mice exhibit decreased body weight by 6 months of age

weight loss ( J:267987 )

skeleton

abnormal vertebral column morphology ( J:267987 )

• all mice develop severe spinal defects

lordokyphosis ( J:267987 )

• all mice exhibit severe kypholordosis by 6 months of age

• transplantation of wild-type bone marrow into irradiated knockout mice does not prevent development of kypholordosis

homeostasis/metabolism

abnormal amino acid level ( J:267987 )

• homocysteine level is significantly increased in the brain, liver, kidney and spleen, with the largest increase observed in liver (13.41-fold)

decreased cystathionine level ( J:267987 )

• cystathionine level is significantly reduced in the brain, liver and kidney

abnormal enzyme/coenzyme level ( J:267987 )

• mRNA expression of Gdpd3 (glycerophosphodiester phosphodiesterase domain containing 3) is significantly reduced in all tissues tested (brain, liver, kidney, lung and spleen), with a similar reduction seen in both young and old (kypholordotic) mice

decreased acetylcholine level ( J:267987 )

• acetylcholine level is significantly decreased in the liver and kidney, with the largest reduction observed in liver (0.55-fold)

decreased phosphocholine level ( J:267987 )

• phosphocholine level is significantly reduced in the kidney, lung, liver and spleen, but not in brain

• largest reduction of phosphocholine level is observed in liver (0.41-fold)

• however, total choline levels are normal in all tissues tested and no changes are noted in lysophosphatidylcholine or glycerophosphocholine (GPC)

abnormal vitamin homeostasis ( J:267987 )

• pyridoxamine (a vitamer of vitamin B6) is significantly reduced in all tissues tested (brain, liver, kidney, lung and spleen)

• however, serum vitamin B6 levels are normal

abnormal metabolism ( J:267987 )

• mice exhibit altered levels of choline-related metabolites, including a striking reduction in phosphocholine levels and elevated homocysteine levels

• additional alterations are observed in acetylcholine, betaine aldehyde, trimethylglycine/betaine, and dimethylglycine levels

• S-adenosylhomocysteine (SAH) levels are increased and S-adenosylmethionine (SAM) levels are decreased in several tissues

• however, histone methylation is normal