Phenotypes associated with this allele

• Allele Symbol: Anxa7^tm1Ngl
• Allele Name: targeted mutation 1, Angelika A Noegel
• Allele ID: MGI:2159006
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Anxa7^tm1Ngl/Anxa7^tm1Ngl	involves: 129S2/SvPas	MGI:3046088

Genotype
MGI:3046088

hm1

• Allelic Composition: Anxa7^tm1Ngl/Anxa7^tm1Ngl
• Genetic Background: involves: 129S2/SvPas

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

Abnormal red blood cells in wild type and Anxa7^tm1Ngl/Anxa7^tm1Ngl mice

mortality/aging

mortality/aging ( J:69979 )

N • homozygotes were viable, fertile and phenotypically normal with respect to size, activity and aging

N • the mutation was bred on 129/Sv and C57BL/6 backgrounds without a loss in viability (Herr, unpublished data)

hematopoietic system

hematopoietic system phenotype ( J:91188 )

N • mutant erythrocytes showed normal membrane organization and normal mean corpuscular volume relative to wild-type

N • notably, sorcin levels were decreased in mutant nanovesilces

N • mutant erythrocytes displayed normal Ca²⁺-mediated formation of exovesicles (both micro- and nanovesicles)

abnormal erythrocyte morphology ( J:91188 )

• mutant erythrocytes had a significantly less accentuated central impression, a more flat shape, and a significant increase in cell diameter relative to wild-type

• in addition, mutant erythorocytes displayed a higher osmotic resistance; however, no significant differences in membrane rigidity or lysis force were observed

thrombocytosis ( J:91188 )

• homozygotes displayed a significantly increased number of platelets

• all other hematological parameters remained normal

abnormal platelet aggregation ( J:91188 )

• mutant platelets exhibited a slightly reduced aggregation velocity relative to wild-type

homeostasis/metabolism

abnormal platelet aggregation ( J:91188 )

• mutant platelets exhibited a slightly reduced aggregation velocity relative to wild-type

abnormal ion homeostasis ( J:69979 , J:86832 )

• cardiomyocytes isolated from adult homozygotes exhibited aberrant regulation of electromechanical coupling at high systolic Ca²⁺ concentration: the frequency-induced shortening was perturbed (J:69979)

• in contrast, cardiomyocytes isolated from early mutant embryos showed intact Ca²⁺ homeostasis, and expressed all of the components necessary for excitation-contraction coupling (J:69979)

• in cultured mutant astrocytes, Ca²⁺ waves propagate with increased velocity, suggesting that annexin A7 modulates Ca²⁺-dependent signaling processes or Ca²⁺ homeostasis in astrocytes (J:86832)

nervous system

abnormal astrocyte physiology ( J:86832 )

• in culture, primary astrocytes from mutant neonates displayed an increased velocity of mechanically-induced astrocytic Ca²⁺ waves relative to wild-type

• in addition, primary astrocytes exhibited a significantly increased proliferation rate as shown by [³H]thymidine uptake assays

endocrine/exocrine glands

endocrine/exocrine gland phenotype ( J:69979 )

N • the insulin content of isolated islets was not significantly different in mutant mice relative to wild-type

N • homozygotes showed no insulin secretion defect: exocytotic release of insulin stimulated by Ca²⁺ and cAMP appeared normal

N • similar to wild-type, the adrenalin response was induced by the interaction of the hormone directly with the exocytotic fusion machinery as well as through lowering cAMP and [Ca²⁺]i

skeleton

skeleton phenotype ( J:69979 )

N • detailed analysis of mutant skeletal muscle using different functional stains revealed no differences