Phenotypes associated with this allele

• Allele Symbol: Pank2^tm1.1Suja
• Allele Name: targeted mutation 1.1, Suzanne Jackowski
• Allele ID: MGI:5446719
• Summary: 4 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pank2^tm1.1Suja/Pank2^tm1.1Suja	B6.129S(FVB)-Pank2^tm1.1Suja	MGI:5446777
hm2	Pank2^tm1.1Suja/Pank2^tm1.1Suja	involves: 129S/SvEv * C57BL/6J * FVB/N	MGI:5446773
cx3	Pank2^tm1.1Suja/Pank2^tm1.1Suja Pank3^tm1.1Suja/Pank3^tm1.1Suja	involves: 129S/SvEv	MGI:5448744
cx4	Pank1^tm1.1Suja/Pank1^tm1.1Suja Pank2^tm1.1Suja/Pank2^tm1.1Suja	involves: 129S/SvEv * C57BL/6J * FVB/N	MGI:5446776

Genotype
MGI:5446777

hm1

• Allelic Composition: Pank2^tm1.1Suja/Pank2^tm1.1Suja
• Genetic Background: B6.129S(FVB)-Pank2^tm1.1Suja

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

mortality/aging

preweaning lethality, complete penetrance ( J:189609 )

• no viable pups are obtained from breeding heterozygotes

Genotype
MGI:5446773

hm2

• Allelic Composition: Pank2^tm1.1Suja/Pank2^tm1.1Suja
• Genetic Background: involves: 129S/SvEv * C57BL/6J * FVB/N

reproductive system

azoospermia ( J:189609 )

♂

small testis ( J:189609 )

♂

male infertility ( J:189609 )

♂

endocrine/exocrine glands

small testis ( J:189609 )

♂

cellular

azoospermia ( J:189609 )

♂

Genotype
MGI:5448744

cx3

• Allelic Composition: Pank2^tm1.1Suja/Pank2^tm1.1Suja; Pank3^tm1.1Suja/Pank3^tm1.1Suja
• Genetic Background: involves: 129S/SvEv

mortality/aging

embryonic lethality, complete penetrance ( J:189609 )

Genotype
MGI:5446776

cx4

• Allelic Composition: Pank1^tm1.1Suja/Pank1^tm1.1Suja; Pank2^tm1.1Suja/Pank2^tm1.1Suja
• Genetic Background: involves: 129S/SvEv * C57BL/6J * FVB/N

Small size of Pank1^tm1.1Suja/Pank1^tm1.1Suja Pank2^tm1.1Suja/Pank2^tm1.1Suja mice

mortality/aging

postnatal lethality, complete penetrance ( J:189609 )

• mice die within 18 days of birth

• not rescued by glucose injection

growth/size/body

decreased body size ( J:189609 )

• after P7

decreased body weight ( J:189609 )

• after P7

postnatal growth retardation ( J:189609 )

• after P7

liver/biliary system

increased liver triglyceride level ( J:189609 )

small liver ( J:189609 )

• at P10

decreased liver weight ( J:189609 )

• at P10

hepatic steatosis ( J:189609 )

behavior/neurological

dystonia ( J:189609 )

• mice drag hind limbs for extended periods between the first and second weeks of birth

• however, this phenotype is resolved before the onset of morbidity leading to death

hindlimb paralysis ( J:189609 )

• mice drag hind limbs for extended periods between the first and second weeks of birth

• however, this phenotype is resolved before the onset of morbidity leading to death

homeostasis/metabolism

decreased fatty acid oxidation ( J:189609 )

• reduced Co-A-dependent fatty acid oxidation in the liver

hypoglycemia ( J:189609 )

• by P10

increased circulating ketone body level ( J:189609 )

• at P10 and P14 due to reduced ketone utilization

abnormal fatty acids level ( J:189609 )

• mice exhibit altered fatty acid profile in the liver (reduced palmitoleic acid, oleic acid, alpha-linoleic acid and increased stearic acid) compared with wild-type mice

increased liver triglyceride level ( J:189609 )

immune system

small spleen ( J:189609 )

• at P10

decreased spleen weight ( J:189609 )

• at P10

muscle

dystonia ( J:189609 )

• mice drag hind limbs for extended periods between the first and second weeks of birth

• however, this phenotype is resolved before the onset of morbidity leading to death

renal/urinary system

small kidney ( J:189609 )

• at P10

decreased kidney weight ( J:189609 )

• at P10

cellular

decreased fatty acid oxidation ( J:189609 )

• reduced Co-A-dependent fatty acid oxidation in the liver

hematopoietic system

small spleen ( J:189609 )

• at P10

decreased spleen weight ( J:189609 )

• at P10