All Phenotypes Pank1<tm1.1Suja> MGI Mouse

Phenotypes associated with this allele

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Pank1^tm1.1Suja/Pank1^tm1.1Suja	involves: 129S/SvEv	MGI:5446775
hm2	Pank1^tm1.1Suja/Pank1^tm1.1Suja	involves: 129S/SvEv * C57BL/6J	MGI:4462021
cx3	Pank1^tm1.1Suja/Pank1^tm1.1Suja Pank3^tm1.1Suja/Pank3^tm1.1Suja	involves: 129S/SvEv	MGI:5448743
cx4	Pank1^tm1.1Suja/Pank1^tm1.1Suja Pank2^tm1.1Suja/Pank2^tm1.1Suja	involves: 129S/SvEv * C57BL/6J * FVB/N	MGI:5446776

Allelic Composition	Pank1^tm1.1Suja/Pank1^tm1.1Suja
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pank1^tm1.1Suja mutation (0 available); any Pank1 mutation (41 available)

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

homeostasis/metabolism

decreased fatty acid oxidation ( J:189609 )

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

cellular

decreased fatty acid oxidation ( J:189609 )

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

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

growth/size/body

increased body weight ( J:161798 )

• increased body weight at 16 weeks old

• gain more weight as they age after 13 weeks old compared to wild-type

homeostasis/metabolism

abnormal amino acid level ( J:161798 )

• significantly higher acetyl-carnitine levels in the livers in both the fed and fasted states

• striking accumulation of >C10 acyl-carnitines in the livers in both the fed and fasted states

• increased C16:0, C18:0 and C18:1 acyl-carnitines in the livers following a 48 h fast

• minor differences in the 3- and 4-carbon acyl-carnitines in the livers

• normal free carnitine level in the livers

abnormal blood homeostasis ( J:161798 )

decreased circulating glucose level ( J:161798 )

• lower 14-hour fasted serum glucose levels

• lower serum glucose levels after 12h, 24h and 48h fast

abnormal gluconeogenesis ( J:161798 )

• severely compromised gluconeogenesis in the pyruvate challenge experiment

• severely compromised gluconeogenesis in their response to oxaloacetate or glycerol in an oxaloacetate challenge and a glycerol challenge

abnormal triglyceride level ( J:161798 )

decreased circulating triglyceride level ( J:161798 )

• lower blood triglycerides levels after an overnight (14 h) fast

decreased liver triglyceride level ( J:161798 )

• lower levels of triglycerides than wild-type mice in the fed state

increased liver triglyceride level ( J:161798 )

• consistently 5 times higher than in the wild-type controls after 48h fast

abnormal enzyme/coenzyme activity ( J:161798 , J:161798 )

• lower free Coenzyme A (CoA) than wild-type livers under both fed and fasted conditions (J:161798)

• marked increase in long-chain acyl-CoAs in the livers after a 48 h fast (J:161798)

• reduced capacity for oxidation in the fasted livers compared to wild-type (J:161798)

• the fatty acid oxidation capacity remains the same as in the fed state after a 48h fast (J:161798)

• no increased free CoA during fasting (J:161798)

• lower trend in short-chain acyl-CoA levels than wild-type livers under both fed and fasted conditions (J:161798)

• modestly increased trend in short-chain acyl-CoA levels in the liver during a 48 h fast (J:161798)

behavior/neurological

polyphagia ( J:161798 )

• eat significantly more food than the wild-type

• same percentage of fat retains as the wild-type

liver/biliary system

decreased liver triglyceride level ( J:161798 )

• lower levels of triglycerides than wild-type mice in the fed state

increased liver triglyceride level ( J:161798 )

• consistently 5 times higher than in the wild-type controls after 48h fast

hepatic steatosis ( J:161798 )

• numerous cellular neutral lipid droplets inclusions following a 48 h fast

abnormal liver physiology ( J:161798 )

• reduced capacity for fatty acid oxidation in hepatocytes

• impaired fatty acid degradation

• significantly higher acetyl-carnitine levels in the livers in both the fed and fasted states

• striking accumulation of >C10 acyl-carnitines in both the fed and fasted states

• increased C16:0, C18:0 and C18:1 acyl-carnitines following a 48 h fast

• minor differences in the 3- and 4-carbon acyl-carnitines

• normal free carnitine level

• normal number of mitochondria

Allelic Composition	Pank1^tm1.1Suja/Pank1^tm1.1Suja Pank3^tm1.1Suja/Pank3^tm1.1Suja
Genetic Background	involves: 129S/SvEv

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pank1^tm1.1Suja mutation (0 available); any Pank1 mutation (41 available)
Pank3^tm1.1Suja mutation (0 available); any Pank3 mutation (21 available)

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

mortality/aging

embryonic lethality, complete penetrance ( J:189609 )

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

Find Mice

Using the International Mouse Strain Resource (IMSR)
Mouse lines carrying:
Pank1^tm1.1Suja mutation (0 available); any Pank1 mutation (41 available)
Pank2^tm1.1Suja mutation (0 available); any Pank2 mutation (34 available)

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

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

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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