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Phenotypes associated with this allele
Allele Symbol
Allele Name
Allele ID
Add1tm1Llp
targeted mutation 1, Luanne Peters
MGI:3799499
Summary 1 genotype
Jump to Allelic Composition Genetic Background Genotype ID
hm1
Add1tm1Llp/Add1tm1Llp involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6J MGI:3807202


Genotype
MGI:3807202
hm1
Allelic
Composition
Add1tm1Llp/Add1tm1Llp
Genetic
Background
involves: 129P2/OlaHsd * 129S1/SvImJ * C57BL/6J
Find Mice Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Add1tm1Llp mutation (0 available); any Add1 mutation (364 available)
phenotype observed in females
phenotype observed in males
N normal phenotype
mortality/aging
• intercrosses of heterozygotes yields only 16% homozygotes, less than mendelian prediction, indicating in utero loss

hematopoietic system
N
• the white blood cell count is normal
• spleens are normal in weight and iron content
• 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
• more pronounced in males than females
• in both males and females
• red blood cells have diminished membrane surface area relative to that in wildtype controls
• platelet counts are elevated significantly in males and to a lesser extent in females
• mean platelet volume is significantly lower in females and lower in males to a level that did not reach statistical significance
• indicative of a compensatory increase in the rate of erythropoiesis
• found in both males and females

homeostasis/metabolism
N
• platelet shape and bleed time are normal
• plasma BUN and electrolyte concentrations are normal

nervous system
• 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
• homozygotes are smaller than normal at birth and throughout life
• average weight of only approximately 10g at 5 weeks of age is much less than littermate controls





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last database update
11/29/2016
MGI 6.06
The Jackson Laboratory