Phenotypes Associated with This Genotype

Genotype
MGI:3836772

• Allelic Composition: Hyal2^tm1.1Bfla/Hyal2^tm1.1Bfla
• Genetic Background: involves: 129P2/OlaHsd * BALB/c * C57BL/6

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

mortality/aging

decreased survivor rate ( J:146040 )

• survival appears lower than in wild-type mice over the 18 month observation period

premature death ( J:146040 )

• survival appears lower than in wild-type mice over the 18 month observation period

postnatal lethality, incomplete penetrance ( J:146040 )

• fewer than expected mice survive beyond weaning (18% instead of the expected 25%)

hematopoietic system

anemia ( J:146040 )

• mild

decreased erythrocyte cell number ( J:146040 )

decreased hemoglobin content ( J:146040 )

polychromatophilia ( J:146040 )

thrombocytopenia ( J:146040 )

reticulocytosis ( J:146040 )

increased spleen iron level ( J:146040 )

skeleton

Wormian bones ( J:146040 )

• newborn and adult mice exhibit an extra diamond-shaped bony structure inserted between frontal and nasal bones, deforming the anterior part of the metopic suture and the frontonasal junction unlike in wild-type mice

• however, mice lack this extra structure at E17.5

abnormal orbit morphology ( J:146040 )

• at 2 to 3 months, the interorbitary space is widened in males compared to in wild-type mice

abnormal cervical vertebrae morphology ( J:146040 )

• the first two cervical vertebrae are abnormally shaped with enlarged bodies and apophyses unlike in wild-type mice

• the C1 C2 junction is abnormal

fusion of atlas and odontoid process ( J:146040 )

• fused with C1 instead of C2

homeostasis/metabolism

increased spleen iron level ( J:146040 )

increased circulating hyaluronic acid level ( J:146040 )

• plasma hyaluronic acid concentrations are elevated 10-fold compared to in wild-type mice

increased circulating lactate dehydrogenase level ( J:146040 )

• plasma lactate dehydrogenase levels are elevated

increased kidney iron level ( J:146040 )

• mice exhibit increased iron deposits in the proximal tubules unlike in wild-type mice

increased liver iron level ( J:146040 )

liver/biliary system

increased liver iron level ( J:146040 )

renal/urinary system

increased kidney iron level ( J:146040 )

• mice exhibit increased iron deposits in the proximal tubules unlike in wild-type mice

immune system

increased spleen iron level ( J:146040 )

craniofacial

Wormian bones ( J:146040 )

• newborn and adult mice exhibit an extra diamond-shaped bony structure inserted between frontal and nasal bones, deforming the anterior part of the metopic suture and the frontonasal junction unlike in wild-type mice

• however, mice lack this extra structure at E17.5

abnormal orbit morphology ( J:146040 )

• at 2 to 3 months, the interorbitary space is widened in males compared to in wild-type mice

short snout ( J:146040 )

• at 3 to 4 weeks

vision/eye

abnormal orbit morphology ( J:146040 )

• at 2 to 3 months, the interorbitary space is widened in males compared to in wild-type mice

growth/size/body

short snout ( J:146040 )

• at 3 to 4 weeks