Phenotypes Associated with This Genotype

Genotype
MGI:3044673

• Allelic Composition: Hip1^tm3Tsr/Hip1^tm3Tsr
• Genetic Background: involves: 129X1/SvJ * C57BL/6

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

cellular

abnormal spermatid morphology ( J:90400 )

♂ • apoptosis of postmeiotic spermatids

mortality/aging

perinatal lethality, incomplete penetrance ( J:90400 )

• incomplete penetrance

• though mice were present in Mendelian ratios between E11 and E18.5, homozygotes were underrepresented after E18.5

growth/size/body

weight loss ( J:90400 )

• associated with kypholordosis

hematopoietic system

hematopoietic system phenotype ( J:90400 )

N • normal peripheral blood count

N • normal frequency of lymphoid progenitors

N • increased resistance to 5-fluorouracil (5-FU) induced myeloablation relative to wild-type

absent common myeloid progenitor cells ( J:90400 )

• reduced frequency of early progenitor (CFU-GEMM) colonies in 85% of mice

• CFU-GEMM colony sizes were normal

• normal frequency of clonogenic hematopoietic progenitors, BFU-E, and CFU-GM

reproductive system

abnormal spermatid morphology ( J:90400 )

♂ • apoptosis of postmeiotic spermatids

testis degeneration ( J:90400 )

♂ • testicular degeneration; more severe than in Hip1^{tm1Tsr/tm1Tsr} mice

reduced male fertility ( J:90400 )

♂ • while most males showed profoundly reduced fertility, some were fertile

skeleton

skeleton phenotype ( J:90400 )

N • neither osteoporosis or osteoarthritis was observed in mice exhibiting kypholordosis

N • no developmental, degenerative skeletal, or cartilage defects

lordokyphosis ( J:90400 )

• kypholordosis was observed as early as 4 months of age and was initially more penetrant in females (particularly pregnant ones), however by 1 year of age 100% exhibited the abnormality

• associated with severe weight loss as it progressed

vision/eye

nuclear cataract ( J:90400 )

• nuclear cataracts associated with cortical abnormalities

small lens ( J:90400 )

• apoptotic cells were observed in the lens

microphthalmia ( J:90400 )

• observed macroscopically in 71% of mice, but closer examination revealed that 100% of the mice had small eyes

• evident at 3 weeks of age, suggesting that the abnormality is due to impaired development rather than degeneration

nervous system

nervous system phenotype ( J:90400 )

N • though CNS defects were suspected to be the cause of the observed kypholordosis, no defects were observed

endocrine/exocrine glands

testis degeneration ( J:90400 )

♂ • testicular degeneration; more severe than in Hip1^{tm1Tsr/tm1Tsr} mice