Phenotypes associated with this allele

• Allele Symbol: Dbnl^tm1Jwnd
• Allele Name: targeted mutation 1, Jurgen Wienands
• Allele ID: MGI:3629216
• Summary: 2 genotypes

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Dbnl^tm1Jwnd/Dbnl^tm1Jwnd	involves: BALB/c	MGI:3629923
ht2	Dbnl^tm1Jwnd/Dbnl^+	involves: BALB/c	MGI:3629924

Genotype
MGI:3629923

hm1

• Allelic Composition: Dbnl^tm1Jwnd/Dbnl^tm1Jwnd
• Genetic Background: involves: BALB/c

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

growth/size/body

decreased body weight ( J:109363 )

• between 60 and 290 days postnatal, 64% of males and 54% of females show decreased body weight

increased spleen weight ( J:109363 )

• at 4-12 months of age, splenomegaly is seen with spleen weights 2-fold greater compared to wild-type

homeostasis/metabolism

generalized edema ( J:109363 )

• generalized edema is observed with the lung and heart anomalies

behavior/neurological

abnormal motor capabilities/coordination/movement ( J:109363 )

• age of onset of neuromotor deficits is ~80 days for females and 170 days for males

limb grasping ( J:109363 )

• mice exhibit clasping of the limbs when suspended by the tail

tremors ( J:109363 )

• between 60 and 290 days postnatal, 64% of males and 54% of females exhibit muscle trembling

impaired coordination ( J:109363 )

• this is significantly decreased in the rotarod test

hindlimb paralysis ( J:109363 )

• between 60 and 290 days postnatal, 64% of males and 54% of females develop partial hindlimb paralysis

nervous system

abnormal synaptic vesicle recycling ( J:109363 )

• synaptic vesicle recycling is reduced in mutants on hippocampal neurons; reformation of synaptic vesicles (recycling) is impaired and delayed compared to wild-type

cardiovascular system

abnormal cardiovascular system physiology ( J:109363 )

• heart failure systems are observed in 44.7% and 48.9% of male and female homozygotes, respectively at 4-12 months of age

immune system

increased spleen weight ( J:109363 )

• at 4-12 months of age, splenomegaly is seen with spleen weights 2-fold greater compared to wild-type

hematopoietic system

increased spleen weight ( J:109363 )

• at 4-12 months of age, splenomegaly is seen with spleen weights 2-fold greater compared to wild-type

respiratory system

abnormal lung morphology ( J:109363 )

• lungs have abnormal structure at 4-12 months of age

emphysema ( J:109363 )

• mice develop emphysema at 4-12 months of age

respiratory distress ( J:109363 )

• breathing is labored at 4-12 months of age

integument

ruffled hair ( J:109363 )

• between 60 and 290 days postnatal, 64% of males and 54% of females display ruffled fur

Genotype
MGI:3629924

ht2

• Allelic Composition: Dbnl^tm1Jwnd/Dbnl⁺
• Genetic Background: involves: BALB/c

growth/size/body

decreased body weight ( J:109363 )

• between 60 and 290 days postnatal, 44% of males and19% of females show decreased body weight

increased spleen weight ( J:109363 )

• increased spleen weights are observed in heterozygotes at 4-12 months of age

cardiovascular system

abnormal cardiovascular system physiology ( J:109363 )

• heart failure systems are observed in 48.1% and 33.3% of male and female heterozygotes, respectively

nervous system

convulsive seizures ( J:109363 )

• between 60 and 290 days postnatal, 44% of males and19% of females can exhibit convulsions

behavior/neurological

tremors ( J:109363 )

• between 60 and 290 days postnatal, 44% of males and19% of females exhibit muscle trembling

impaired coordination ( J:109363 )

• this is significantly decreased in the rotarod test

impaired swimming ( J:109363 )

• in the Morris water maze test, swimming is severely impaired

hindlimb paralysis ( J:109363 )

• between 60 and 290 days postnatal, 44% of males and19% of females develop partial hindlimb paralysis

convulsive seizures ( J:109363 )

• between 60 and 290 days postnatal, 44% of males and19% of females can exhibit convulsions

immune system

increased spleen weight ( J:109363 )

• increased spleen weights are observed in heterozygotes at 4-12 months of age

hematopoietic system

increased spleen weight ( J:109363 )

• increased spleen weights are observed in heterozygotes at 4-12 months of age

integument

ruffled hair ( J:109363 )

• between 60 and 290 days postnatal, 44% of males and 19% of females display ruffled fur