Phenotypes associated with this allele

• Allele Symbol: Vwa1^tm1Jfba
• Allele Name: targeted mutation 1, John F Bateman
• Allele ID: MGI:3809230
• Summary: 1 genotype

Jump to	Allelic Composition	Genetic Background	Genotype ID
hm1	Vwa1^tm1Jfba/Vwa1^tm1Jfba	C57BL/6-Vwa1^tm1Jfba	MGI:4868483

Genotype
MGI:4868483

hm1

• Allelic Composition: Vwa1^tm1Jfba/Vwa1^tm1Jfba
• Genetic Background: C57BL/6-Vwa1^tm1Jfba

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

Basement membranes of adjacent axons in the sciatic nerve are partially fused in Vwa1^tm1Jfba/Vwa1^tm1Jfba mice

behavior/neurological

abnormal motor coordination/balance ( J:149746 )

• homozygous mice perform more poorly than wild type mice in the ledged beam test; no differences are seen in the number of steps taken on the ledged beam in the last 33 cm, but there is a significant increase in the distance marker of initial foot fault, indicating that the mutant mice had their initial foot fault at a point where the beam was wider

increased thermal nociceptive threshold ( J:149746 )

• homozygous mice perform more poorly on the hotplate test, demonstrating that mutant mice have an increased latency to respond to a painful stimulus compared with wild type mice

nervous system

abnormal nervous system morphology ( J:149746 )

• in peripheral nerve endoneurium, in addition to a reduction in collagen VI immunostaining intensity, the collagen VI network is severely disorganized, and the fine sheet-like distribution normally present in the control nerve is lost

• the endoneurial basement membrane is not affected, and the collagen VI distribution in the outer perineurium layer of the nerve is also unaffected in the mutant mice

• the distribution of interstitial collagenous matrix in the interaxonal space is altered and appears to be less tightly associated to the basement membranes compared with control mice

• although the ECM defects in mutant nerves are apparent, no evidence of demyelination or axonal degeneration could be detected by electron microscopy, and teased analysis did not reveal any abnormalities such as shortened or thinned internodal segments

skeleton

skeleton phenotype ( J:149746 )

N • skeletal tissues of mutant mice develop normally, with no apparent malformations or size differences from controls

N • no abnormalities in joint formation or separation of developing skeletal structures are detectable in the permanent cartilage structures such as the intervertebral discs meniscus, and sternum

N • 12-month-old control and mutant mouse tissues stained with toluidine blue show that mutant mice do not exhibit an increased susceptibility to joint pathology or to degeneration of the intervertebral disc

muscle

muscle phenotype ( J:149746 )

N • histological analysis of skeletal muscle and diaphragm from control and mutant mice up to 12 months of age exhibit no gross histological changes consistent with muscle pathology