Phenotypes associated with this allele

• Allele Symbol: Akap13^tm1Segj
• Allele Name: targeted mutation 1, James H Segars
• Allele ID: MGI:5308769
• Summary: 3 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Akap13^tm1Segj/Akap13^tm1Segj	involves: 129	MGI:5308774
hm2	Akap13^tm1Segj/Akap13^tm1Segj	involves: 129 * C57BL/6	MGI:5308776
ht3	Akap13^tm1Segj/Akap13^+	involves: 129	MGI:5308775

Genotype
MGI:5308774

hm1

• Allelic Composition: Akap13^tm1Segj/Akap13^tm1Segj
• Genetic Background: involves: 129

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

mortality/aging

prenatal lethality, complete penetrance ( J:111574 )

• mice die in utero

Genotype
MGI:5308776

hm2

• Allelic Composition: Akap13^tm1Segj/Akap13^tm1Segj
• Genetic Background: involves: 129 * C57BL/6

mortality/aging

embryonic lethality during organogenesis, complete penetrance ( J:181087 )

• mice die between E10.5 and E11.0

cardiovascular system

myocardial trabeculae hypoplasia ( J:181087 )

thin myocardium ( J:181087 )

abnormal heart development ( J:181087 )

• heart development arrests after E9.0 to E9.5

• chamber development slows and arrests by E9.5 to E10.0

• however, the primary ring is visible and there is no increase in apoptosis

enlarged heart ( J:181087 )

pericardial effusion ( J:181087 )

embryo

small first pharyngeal arch ( J:181087 )

• hypoplastic first brachial arch

embryonic growth retardation ( J:181087 )

• developmental delay by E10.0

nervous system

decreased forebrain size ( J:181087 )

• by E10.0

craniofacial

small first pharyngeal arch ( J:181087 )

• hypoplastic first brachial arch

growth/size/body

enlarged heart ( J:181087 )

embryonic growth retardation ( J:181087 )

• developmental delay by E10.0

abnormal nuchal region morphology ( J:181087 )

• constriction of the nuchal region by E10.0

muscle

myocardial trabeculae hypoplasia ( J:181087 )

thin myocardium ( J:181087 )

abnormal sarcomere morphology ( J:181087 )

• in the heart at E9.0 to E9.5

homeostasis/metabolism

pericardial effusion ( J:181087 )

Genotype
MGI:5308775

ht3

• Allelic Composition: Akap13^tm1Segj/Akap13⁺
• Genetic Background: involves: 129

reproductive system

reduced fertility ( J:181087 )

immune system

increased transitional stage T1 B cell number ( J:181088 )

• in the spleen

decreased B cell number ( J:181088 )

• decreased CD19+/CD21+ B cells in the spleen

decreased transitional stage T2 B cell number ( J:181088 )

• in the spleen

small spleen ( J:181088 )

decreased spleen weight ( J:181088 )

• in male and female mice

spleen hypoplasia ( J:181088 )

decreased spleen B cell follicle size ( J:181088 )

• smaller than in wild-type mice

decreased splenocyte number ( J:181088 )

abnormal lymphocyte physiology ( J:111574 )

• lymphocytes exhibit decreased glucocorticoid sensitivity compared with wild-type cells

decreased IgG1 level ( J:181088 )

• in response to ovalbumin

abnormal splenocyte physiology ( J:181088 )

• splenocytes exhibit impaired gene expression response to osmotic stress compared with wild-type cells

hematopoietic system

increased transitional stage T1 B cell number ( J:181088 )

• in the spleen

decreased B cell number ( J:181088 )

• decreased CD19+/CD21+ B cells in the spleen

decreased transitional stage T2 B cell number ( J:181088 )

• in the spleen

small spleen ( J:181088 )

decreased spleen weight ( J:181088 )

• in male and female mice

spleen hypoplasia ( J:181088 )

decreased spleen B cell follicle size ( J:181088 )

• smaller than in wild-type mice

decreased splenocyte number ( J:181088 )

abnormal lymphocyte physiology ( J:111574 )

• lymphocytes exhibit decreased glucocorticoid sensitivity compared with wild-type cells

decreased IgG1 level ( J:181088 )

• in response to ovalbumin

abnormal splenocyte physiology ( J:181088 )

• splenocytes exhibit impaired gene expression response to osmotic stress compared with wild-type cells