Phenotypes Associated with This Genotype

Genotype
MGI:3807202

• Allelic Composition: Add1^tm1Llp/Add1^tm1Llp
• Genetic Background: involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6J

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

mortality/aging

prenatal lethality, incomplete penetrance ( J:138919 )

• intercrosses of heterozygotes yields only 16% homozygotes, less than mendelian prediction, indicating in utero loss

hematopoietic system

hematopoietic system phenotype ( J:138919 )

N • the white blood cell count is normal

N • spleens are normal in weight and iron content

hemolytic anemia ( J:138919 )

abnormal erythrocyte morphology ( J:138919 )

• red blood cells are osmotically fragile, shperocytic, hypochromic, microcytic, and have a lower maximum deformability index with ektacytometry showing a loss of membrane surface area

decreased hematocrit ( J:138919 )

• more pronounced in males than females

increased hemoglobin concentration distribution width ( J:138919 )

• in both males and females

decreased mean corpuscular hemoglobin ( J:138919 )

• in both males and females

increased mean corpuscular hemoglobin concentration ( J:138919 )

• in males

decreased mean corpuscular volume ( J:138919 )

• red blood cells have diminished membrane surface area relative to that in wildtype controls

spherocytosis ( J:138919 )

thrombocytosis ( J:138919 )

• platelet counts are elevated significantly in males and to a lesser extent in females

decreased mean platelet volume ( J:138919 )

• mean platelet volume is significantly lower in females and lower in males to a level that did not reach statistical significance

reticulocytosis ( J:138919 )

• indicative of a compensatory increase in the rate of erythropoiesis

• found in both males and females

homeostasis/metabolism

homeostasis/metabolism phenotype ( J:138919 )

N • platelet shape and bleed time are normal

N • plasma BUN and electrolyte concentrations are normal

nervous system

non-obstructive hydrocephaly ( J:138919 )

• approximately half of homozygotes develop hydrocephaly, and on average this phenotype is overtly visible by 8 weeks of age

• progressive dilation of the lateral and third ventricles with the cerebral aqueduct open resulting in accumulation of fluid within the fourth ventricle

growth/size/body

decreased body size ( J:138919 )

• homozygotes are smaller than normal at birth and throughout life

decreased body weight ( J:138919 )

• average weight of only approximately 10g at 5 weeks of age is much less than littermate controls

Mouse Models of Human Disease		DO ID	OMIM ID(s)	Ref(s)
hydrocephalus		DOID:10908	OMIM:123155 OMIM:236600 OMIM:236635 OMIM:307000 OMIM:615219	J:138919